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The mucopolysaccharidoses are a group of inherited metabolic diseases in which a defective or missing enzyme causes large amounts of complex sugar molecules to accumulate in harmful amounts in the body's cells and tissues. This accumulation causes permanent, progressive cellular damage that affects appearance, physical abilities, organ and system functioning, and, in most cases, mental development.Depending on the type of mucopolysaccharidosis, affected individuals may have normal intellect or may be profoundly impaired, may experience developmental delay, or have severe behavioral problems. Physical symptoms generally include coarse or rough facial features, thick lips, an enlarged mouth and tongue, short stature with a disproportionately short trunk (dwarfism), abnormal bone size or shape (and other skeletal irregularities), thickened skin, enlarged organs such as the liver or spleen, hernias, and excessive body hair growth.
Your immune system is a complex network of cells, tissues, and organs that work together to defend against germs. It helps your body to recognize these "foreign" invaders. Then its job is to keep them out, or if it can't, to find and destroy them. If your immune system cannot do its job, the results can be serious. Disorders of the immune system include - Allergy and asthma - immune responses to substances that are usually not harmful - Immune deficiency diseases - disorders in which the immune system is missing one or more of its parts - Autoimmune diseases - diseases causing your immune system to attack your own body's cells and tissues by mistake NIH: National Institute of Allergy and Infectious Diseases
This condition has an unknown inheritance pattern. Approximately 40 percent of affected individuals have at least one close family member with psoriasis or psoriatic arthritis.
Trigeminal neuralgia (TN) is a type of chronic pain that affects your face. It causes extreme, sudden burning or shock-like pain. It usually affects one side of the face. Any vibration on your face, even from talking, can set it off. The condition may come and go, disappearing for days or even months. But the longer you have it, the less often it goes away. TN usually affects people over 50, especially women. The cause is probably a blood vessel pressing on the trigeminal nerve, one of the largest nerves in the head. Tumors and multiple sclerosis can also cause TN, but in some cases the cause is unknown. There is no single test to diagnose TN. It can be hard to diagnose, since many other conditions can cause facial pain. Treatment options include medicines, surgery, and complementary techniques. NIH: National Institute of Neurological Disorders and Stroke
These resources address the diagnosis or management of oculocutaneous albinism: - Gene Review: Gene Review: Oculocutaneous Albinism Type 1 - Gene Review: Gene Review: Oculocutaneous Albinism Type 2 - Gene Review: Gene Review: Oculocutaneous Albinism Type 4 - Genetic Testing Registry: Oculocutaneous albinism - MedlinePlus Encyclopedia: Albinism These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
These resources address the diagnosis or management of HANAC syndrome: - Gene Review: Gene Review: COL4A1-Related Disorders - Genetic Testing Registry: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Klatskin tumors are tumors that affect the upper part of the bile duct where it divides to enter the right and left parts of the liver. One or both sides may be affected. Individuals with Klatskin tumors often present with jaundice and/or abnormal liver tests. Treatment may involve surgical removal of the tumor. Not all tumors can be removed. Prognosis for cases that cannot be removed (non-resectable tumors) is poor.
Frank-Ter Haar syndrome is a rare inherited condition characterized by multiple skeletal abnormalities, developmental delay, and characteristic facial features (unusually large cornea, flattened back of the head, wide fontanels, prominent forehead, widely spaced eyes, prominent eyes, full cheeks, and small chin). Less than 30 cases have been reported worldwide. Protruding ears, prominent coccyx bone (or tail bone), and congenital heart defects are also frequently present. This condition is caused by mutations in the SH3PXD2B gene and is thought to be inherited in an autosomal recessive fashion.
The gene associated with LNS is known. The NINDS supports and conducts research on genetic disorders such as LNS in an effort to find ways to prevent and treat these disorders.
The tissue that lines your lungs, stomach, heart, and other organs is called mesothelium. Mesothelioma is a tumor of that tissue. It usually starts in the lungs, but can also start in the abdomen or other organs. It can be benign (not cancer) or malignant (cancer.) Malignant mesothelioma is a rare but serious type of cancer. Most people who get it have worked on jobs where they inhaled asbestos particles. After being exposed to asbestos, it usually takes a long time for the disease to form. Symptoms include - Trouble breathing - Pain under the rib cage - Pain, swelling, or lumps in the abdomen - Weight loss for no known reason Sometimes it is hard to tell the difference between malignant mesothelioma and lung cancer. Your doctor uses imaging tests and a biopsy to make the diagnosis. Malignant mesothelioma is often found when it is advanced. This makes it harder to treat. Treatment may include surgery, radiation, and/or chemotherapy. NIH: National Cancer Institute
There are no specific treatments to prevent, slow, or reverse HSP. Symptomatic treatments used for spasticity, such as muscle relaxants, are sometimes helpful. Regular physical therapy is important for muscle strength and to preserve range of motion.
Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors. In some families, CVID is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. In very rare cases, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. When CVID is caused by mutations in the TNFRSF13B gene, it is often sporadic. When TNFRSF13B gene mutations are inherited, they can cause either autosomal dominant CVID or autosomal recessive CVID. Not all individuals who inherit a gene mutation associated with CVID will develop the disease. In many cases, affected children have an unaffected parent who shares the same mutation. Additional genetic or environmental factors are probably needed for the disorder to occur.
48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment. Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems. Patients have an essentially normal life expectancy but require regular medical follow-up.
Oral lichen planus is a inflammatory condition that affects the inside of the mouth. Signs and symptoms include patches of fine white lines and dots most commonly in the inside of the cheeks, gums, and/or tongue. Most people with lichen planus experience no to few symptoms, others may have painful sores or ulcers in the mouth. Severe lichen planus slightly increases the risk for oral cancer. Oral lichen planus may occur alone or in combination with other skin forms of lichen planus.
What are the signs and symptoms of Rhizomelic chondrodysplasia punctata type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic chondrodysplasia punctata type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Epiphyseal stippling - Failure to thrive - Rhizomelia - Short femur - Short humerus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
GSDV is a rare disorder; however, its prevalence is unknown. In the Dallas-Fort Worth area of Texas, where the prevalence of GSDV has been studied, the condition is estimated to affect 1 in 100,000 individuals.
Rotor syndrome is an inherited disorder characterized by elevated levels of bilirubin in the blood (hyperbilirubinemia). Bilirubin is produced when red blood cells are broken down, and has an orange-yellow tint. The buildup of bilirubin in the body causes yellowing of the skin or whites of the eyes (jaundice), which is the only symptom of the disorder. Jaundice is usually evident in infancy or early childhood, and it may come and go. Rotor syndrome is caused by having mutations in both the SLCO1B1 and SLCO1B3 genes and is inherited in an autosomal recessive manner. The disorder is generally considered benign, and no treatment is needed.
Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy. The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported.
The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to sleep apnea in laboratories at the NIH, and also support additional research through grants to major medical institutions across the country. Much of this research focuses on finding better ways to prevent, treat, and ultimately cure sleep disorders, such as sleep apnea.
You can't prevent varicose veins from forming. However, you can prevent the ones you have from getting worse. You also can take steps to delay other varicose veins from forming. Avoid standing or sitting for long periods without taking a break. When sitting, avoid crossing your legs. Keep your legs raised when sitting, resting, or sleeping. When you can, raise your legs above the level of your heart. Do physical activities to get your legs moving and improve muscle tone. This helps blood move through your veins. If you're overweight or obese, try to lose weight. This will improve blood flow and ease the pressure on your veins. Avoid wearing tight clothes, especially those that are tight around your waist, groin (upper thighs), and legs. Tight clothes can make varicose veins worse. Avoid wearing high heels for long periods. Lower heeled shoes can help tone your calf muscles. Toned muscles help blood move through the veins. Wear compression stockings if your doctor recommends them. These stockings create gentle pressure up the leg. This pressure keeps blood from pooling in the veins and decreases swelling in the legs.
Nicolaides-Baraitser syndrome follows an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. All cases of this condition result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Treatment for myotonia may include mexiletine, quinine, phenytoin, and other anticonvulsant drugs. Physical therapy and other rehabilitative measures may help muscle function.
The liver is an organ that does many important things. You cannot live without a liver. *See the Pronunciation Guide for tips on how to say the words in bold type. The liver - removes harmful chemicals from your blood - fights infection - helps digest food - stores nutrients and vitamins - stores energy
The symptoms of dialysis-related amyloidosis may include - pain, stiffness, and fluid in the joints. - abnormal, fluid-containing sacs, called cysts, in some bones. - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. The symptoms of carpal tunnel syndrome include numbness or tingling, sometimes associated with muscle weakness, in the fingers and hands. Dialysis-related amyloidosis most often affects bones, joints, and the tissues that connect muscle to bone, called tendons. The disease may also affect the digestive tract and organs such as the heart and lungs. Bone cysts caused by dialysis-related amyloidosis can lead to bone fractures. Dialysis-related amyloidosis can also cause tears in tendons and ligaments. Ligaments are tissues that connect bones to other bones.
Weyers acrofacial dysostosis is inherited in an autosomal dominant pattern, which means one copy of the altered EVC or EVC2 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from a parent who has the condition.
Vaginal problems are some of the most common reasons women go to the doctor. They may have symptoms such as - Itching - Burning - Pain - Abnormal bleeding - Discharge Often, the problem is vaginitis, an inflammation of the vagina. The main symptom is smelly vaginal discharge, but some women have no symptoms. Common causes are bacterial infections, trichomoniasis, and yeast infections. Some other causes of vaginal symptoms include sexually transmitted diseases, vaginal cancer, and vulvar cancer. Treatment of vaginal problems depends on the cause.
While in rare cases some patients may regain certain functions, the chances for motor recovery are very limited.
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
The bladder is a hollow organ in your lower abdomen that stores urine. Many conditions can affect your bladder. Some common ones are - Cystitis - inflammation of the bladder, often from an infection - Urinary incontinence - loss of bladder control - Overactive bladder - a condition in which the bladder squeezes urine out at the wrong time - Interstitial cystitis - a chronic problem that causes bladder pain and frequent, urgent urination - Bladder cancer Doctors diagnose bladder diseases using different tests. These include urine tests, x-rays, and an examination of the bladder wall with a scope called a cystoscope. Treatment depends on the cause of the problem. It may include medicines and, in severe cases, surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
These resources address the diagnosis or management of CARASIL: - Gene Review: Gene Review: CARASIL - Genetic Testing Registry: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
How might Lambert-Eaton myasthenic syndrome be treated? Medications and therapies used to treat Lambert-Eaton myasthenic syndrome may include anticholinesterase agents (e.g., Pyridostigmine), guanidine hydrochloride, plasmapheresis (where blood plasma is removed and replaced with fluid, protein, or donated plasma) or IV immunoglobulins, steroids (e.g., prednisone), azathioprine or cyclosporine, and/or 3,4-diaminopyridine. 3,4-diaminopyridine is available in Europe and may be available in the U.S. on a compassionate use basis. While there has been some evidence that either 3,4-diaminopyridine or IV immunoglobulin can improve muscle strength and nerve to muscle cell communication, the degree of benefit (i.e., how much symptoms are improved) still needs to be determined.
Treatment is symptomatic. Children with GAN and their families usually work with a medical team that includes a pediatric neurologist, orthopedic surgeon, physiotherapist, psychologist, and speech and occupational therapists. The major goals of treatment are to maximize intellectual and physical development and minimize their deterioration as time passes. Many children with GAN begin with normal intellectual development and are able to attend a regular school program. Children should be monitored at least once a year to assess their intellectual abilities and to look for the presence of neurological deterioration.
These resources address the diagnosis or management of RAMSVPS: - Calgary Retina Consultants: Retinal Arterial Macroaneurysm - Genetic Testing Registry: Retinal arterial macroaneurysm with supravalvular pulmonic stenosis - MedlinePlus Encyclopedia: Fluorescein Angiography - University of Rochester Medical Center: Pulmonary Stenosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Choroideremia is a condition characterized by progressive vision loss that mainly affects males. The first symptom of this condition is usually an impairment of night vision (night blindness), which can occur in early childhood. A progressive narrowing of the field of vision (tunnel vision) follows, as well as a decrease in the ability to see details (visual acuity). These vision problems are due to an ongoing loss of cells (atrophy) in the specialized light-sensitive tissue that lines the back of the eye (retina) and a nearby network of blood vessels (the choroid). The vision impairment in choroideremia worsens over time, but the progression varies among affected individuals. However, all individuals with this condition will develop blindness, most commonly in late adulthood.
What are the signs and symptoms of Absent patella? The Human Phenotype Ontology provides the following list of signs and symptoms for Absent patella. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Autosomal dominant inheritance - Patellar aplasia - Patellar hypoplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
EKVP is a rare disorder; its prevalence is unknown.
Sclerosing mesenteritis is one of many terms used to describe a spectrum of chronic inflammatory diseases affecting the small bowel mesentery, the membrane that anchors the small intestine to the back of the abdominal wall. The cause of this condition is unknown. The most common symptom is abdominal pain or a palpable abdominal mass. Click on the highlighted text to view an illustration of the small intestine.
Pityriasis lichenoides et varioliformis acuta (PLEVA) is the acute form of a skin condition called pityriasis lichenoides. Affected people generally develop a few to more than one hundred scaling papules which may become filled with blood and/or pus or erode into crusted red-brown spots. PLEVA generally resolves on its own within a few weeks to a few months; however, some people experience episodes of the condition on and off for years. Although PLEVA is diagnosed in people of all ages, it most commonly affects children and young adults. The exact underlying cause is unknown, but some scientists suspect that it may occur due to an exaggerated immune response or an overproduction of certain white blood cells (lymphoproliferative disorder). If treatment is necessary, recommended therapies may include oral antibiotic, sun exposure, topical steroids, immunomodulators (medications used to help regulate or normalize the immune system), phototherapy and/or systemic steroids.
What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Diaphyseal sclerosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
More than 99 percent of PPM-X syndrome cases occur in people with no history of the disorder in their family. Many of these cases result from new mutations in the MECP2 gene. A few families with more than one affected family member have been described. These cases helped researchers determine that PPM-X syndrome has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. One copy of the altered gene in each cell is sufficient to cause the condition, although females with one altered copy of the gene are usually less severely affected than males.
These resources address the diagnosis or management of Duchenne and Becker muscular dystrophy: - Gene Review: Gene Review: Dilated Cardiomyopathy Overview - Gene Review: Gene Review: Dystrophinopathies - Genetic Testing Registry: Becker muscular dystrophy - Genetic Testing Registry: Duchenne muscular dystrophy - Genomics Education Programme (UK) - MedlinePlus Encyclopedia: Becker Muscular Dystrophy - MedlinePlus Encyclopedia: Dilated Cardiomyopathy - MedlinePlus Encyclopedia: Duchenne Muscular Dystrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
The pancreas is a gland behind your stomach and in front of your spine. It produces the juices that help break down food and the hormones that help control blood sugar levels. Pancreatic cancer usually begins in the cells that produce the juices. Some risk factors for developing pancreatic cancer include - Smoking - Long-term diabetes - Chronic pancreatitis - Certain hereditary disorders Pancreatic cancer is hard to catch early. It doesn't cause symptoms right away. When you do get symptoms, they are often vague or you may not notice them. They include yellowing of the skin and eyes, pain in the abdomen and back, weight loss and fatigue. Also, because the pancreas is hidden behind other organs, health care providers cannot see or feel the tumors during routine exams. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose it. Because it is often found late and it spreads quickly, pancreatic cancer can be hard to treat. Possible treatments include surgery, radiation, chemotherapy, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute
In most of the families reported so far, tetra-amelia syndrome appears to have an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with tetra-amelia syndrome each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.
Swelling in the anal or rectal veins causes hemorrhoids. Several factors may cause this swelling, including - chronic constipation or diarrhea - straining during bowel movements - sitting on the toilet for long periods of time - a lack of fiber in the diet Another cause of hemorrhoids is the weakening of the connective tissue in the rectum and anus that occurs with age. Pregnancy can cause hemorrhoids by increasing pressure in the abdomen, which may enlarge the veins in the lower rectum and anus. For most women, hemorrhoids caused by pregnancy disappear after childbirth.
Summary : For many people, laser eye surgery can correct their vision so they no longer need glasses or contact lenses. Laser eye surgery reshapes the cornea, the clear front part of the eye. This changes its focusing power. There are different types of laser eye surgery. LASIK - laser-assisted in situ keratomileusis - is one of the most common. Many patients who have LASIK end up with 20/20 vision. But, like all medical procedures, it has both risks and benefits. Only your eye doctor can tell if you are a good candidate for laser eye surgery.
Signs of penile cancer include sores, discharge, and bleeding. These and other signs may be caused by penile cancer or by other conditions. Check with your doctor if you have any of the following: - Redness, irritation, or a sore on the penis. - A lump on the penis.
- Short bowel syndrome is a group of problems related to poor absorption of nutrients. - People with short bowel syndrome cannot absorb enough water, vitamins, minerals, protein, fat, calories, and other nutrients from food. - The main symptom of short bowel syndrome is diarrhealoose, watery stools. Diarrhea can lead to dehydration, malnutrition, and weight loss. - A health care provider will recommend treatment for short bowel syndrome based on a patient's nutritional needs. Treatment may include - nutritional support - medications - surgery - intestinal transplant
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, also known as CANDLE syndrome, is a rare autoinflammatory condition. Signs and symptoms generally develop during the first year of life and may include recurrent fevers, purpura, swollen eyelids, joint pain, contractures, developmental delay and progressive lipodystrophy. CANDLE syndrome is often caused by changes (mutations) in the PSMB8 gene and is inherited in an autosomal recessive manner. In some cases, the underlying genetic cause is unknown. There is currently no cure for the condition. Treatment is based on the signs and symptoms present in each person.
Myositis means inflammation of the muscles that you use to move your body. An injury, infection, or autoimmune disease can cause it. Two specific kinds are polymyositis and dermatomyositis. Polymyositis causes muscle weakness, usually in the muscles closest to the trunk of your body. Dermatomyositis causes muscle weakness, plus a skin rash. Other symptoms of myositis may include - Fatigue after walking or standing - Tripping or falling - Trouble swallowing or breathing Doctors may use a physical exam, lab tests, imaging tests and a muscle biopsy to diagnose myositis. There is no cure for these diseases, but you can treat the symptoms. Polymyositis and dermatomyositis are first treated with high doses of a corticosteroid. Other options include medications, physical therapy, exercise, heat therapy, assistive devices, and rest. NIH: National Institute of Neurological Disorders and Stroke
A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It appears to be critical for the normal development and function of nerve cells in the brain. A mutation in the TOR1A gene alters the structure of torsinA. The altered protein's effect on the function of nerve cells in the brain is unclear. People with early-onset primary dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement. Researchers are working to determine how a change in this protein leads to the characteristic features of this disorder.
What are the signs and symptoms of Insulinoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Insulinoma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Insulinoma - Somatic mutation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
These resources address the diagnosis or management of 22q11.2 deletion syndrome: - Gene Review: Gene Review: 22q11.2 Deletion Syndrome - Genetic Testing Registry: Asymmetric crying face association - Genetic Testing Registry: DiGeorge sequence - Genetic Testing Registry: Opitz G/BBB syndrome - Genetic Testing Registry: Shprintzen syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Key Points - Testicular cancer is a disease in which malignant (cancer) cells form in the tissues of one or both testicles. - Testicular cancer is the most common cancer in men aged 15 to 34 years. - Testicular cancer can usually be cured. - A condition called cryptorchidism (an undescended testicle) is a risk factor for testicular cancer. Testicular cancer is a disease in which malignant (cancer) cells form in the tissues of one or both testicles. The testicles are 2 egg-shaped glands inside the scrotum (a sac of loose skin that lies directly below the penis). The testicles are held within the scrotum by the spermatic cord. The spermatic cord also contains the vas deferens and vessels and nerves of the testicles. The testicles are the male sex glands and make testosterone and sperm. Germ cells in the testicles make immature sperm. These sperm travel through a network of tubules (tiny tubes) and larger tubes into the epididymis (a long coiled tube next to the testicles). This is where the sperm mature and are stored. Almost all testicular cancers start in the germ cells. The two main types of testicular germ cell tumors are seminomas and nonseminomas. See the PDQ summary on Testicular Cancer Treatment for more information about testicular cancer.
Gallstones are hard particles that develop in the gallbladder. The gallbladder is a small, pear-shaped organ located in the upper right abdomenthe area between the chest and hipsbelow the liver. Gallstones can range in size from a grain of sand to a golf ball. The gallbladder can develop a single large gallstone, hundreds of tiny stones, or both small and large stones. Gallstones can cause sudden pain in the upper right abdomen. This pain, called a gallbladder attack or biliary colic, occurs when gallstones block the ducts of the biliary tract.
Tuberous sclerosis complex has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors and other problems with development. In about one-third of cases, an affected person inherits an altered TSC1 or TSC2 gene from a parent who has the disorder. The remaining two-thirds of people with tuberous sclerosis complex are born with new mutations in the TSC1 or TSC2 gene. These cases, which are described as sporadic, occur in people with no history of tuberous sclerosis complex in their family. TSC1 mutations appear to be more common in familial cases of tuberous sclerosis complex, while mutations in the TSC2 gene occur more frequently in sporadic cases.
Before scientists learned how to make synthetic hormones, many animal hormones, such as insulin, were used to treat human disorders. Growth hormone from animals did not work in humans. Human growth hormone (pituitary hGH) was therefore made from human pituitary glands by the National Hormone and Pituitary Program (NHPP), funded by the U.S. Department of Health and Human Services (HHS). From 1963 to 1985, the NHPP sent pituitary hGH to hundreds of doctors across the country. As a part of research studies, doctors used the hormone to treat nearly 7,700 children for failure to grow. In 1985, the HHS learned that three young men treated with pituitary hGH died of Creutzfeldt-Jakob disease (CJD), a rare and incurable brain disease. The HHS believed these illnesses were related to pituitary hGH. The HHS immediately stopped the distribution of the hormone and began a national study to learn more about how pituitary hGH treatment may have caused this problem. The HHS continues to monitor individuals who received pituitary hGH through the NHPP for CJD.
How is Muir-Torre syndrome diagnosed? A person is suspected to have Muir-Torre syndrome (MTS)if he/she has one or more of the following: History of one or more sebaceous tumors Age younger than 60 years at first presentation of sebaceous tumors Personal history of Lynch-related cancers Family history of Lynch-related cancers The presence of specific skin tumors in MTS may lead to the correct diagnosis even in the absence of a clear family history. A person diagnosed with MTS can also have genetic testing to see if they have a mutation in one of the genes known to cause MTS. However, not everyone with Muir-Torre syndrome will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.
Warfarin resistance is thought to be a rare condition, although its prevalence is unknown.
What are the signs and symptoms of sialadenitis? Signs and symptoms of sialadenitis may include fever, chills, and unilateral pain and swelling in the affected area. The affected gland may be firm and tender, with redness of the overlying skin. Pus may drain through the gland into the mouth.
Prolidase deficiency is a rare disorder. Approximately 70 individuals with this disorder have been documented in the medical literature, and researchers have estimated that the condition occurs in approximately 1 in 1 million to 1 in 2 million newborns. It is more common in certain areas in northern Israel, both among members of a religious minority called the Druze and in nearby Arab Moslem populations.
More than 200 people with inclusion body myopathy 2 have been reported. Most are of Iranian Jewish descent; the condition affects an estimated 1 in 1,500 people in this population. Additionally, at least 15 people in the Japanese population have been diagnosed with this disorder. Inclusion body myopathy 2 has also been found in several other ethnic groups worldwide.
- Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Abdominal adhesions cause tissues and organs in the abdominal cavity to stick together. - Abdominal surgery is the most frequent cause of abdominal adhesions. Of patients who undergo abdominal surgery, 93 percent develop abdominal adhesions. - In most cases, abdominal adhesions do not cause symptoms. When symptoms are present, chronic abdominal pain is the most common. - A complete intestinal obstruction is life threatening and requires immediate medical attention and often surgery. - Abdominal adhesions cannot be detected by tests or seen through imaging techniques such as x rays or ultrasound. However, abdominal x rays, a lower gastrointestinal (GI) series, and computerized tomography (CT) scans can diagnose intestinal obstructions. - Surgery is the only way to treat abdominal adhesions that cause pain, intestinal obstruction, or fertility problems.
In most cases, the goal is probably to keep your blood pressure below 140/90 mmHg (130/80 if you have diabetes or chronic kidney disease). Normal blood pressure is less than 120/80. Ask your doctor what your blood pressure goal should be. If you have high blood pressure, you will need to treat it and control it for life. This means making lifestyle changes, and, in some cases, taking prescribed medicines, and getting ongoing medical care.
These resources address the diagnosis or management of mucopolysaccharidosis type III: - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D - MedlinePlus Encyclopedia: Sanfilippo Syndrome - National MPS Society: A Guide to Understanding MPS III These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Is chondrocalcinosis 2 inherited? Chondrocalcinosis 2 is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with chondrocalcinosis 2 has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
Congenital myasthenic syndrome is a group of conditions characterized by muscle weakness (myasthenia) that worsens with physical exertion. The muscle weakness typically begins in early childhood but can also appear in adolescence or adulthood. Facial muscles, including muscles that control the eyelids, muscles that move the eyes, and muscles used for chewing and swallowing, are most commonly affected. However, any of the muscles used for movement (skeletal muscles) can be affected in this condition. Due to muscle weakness, affected infants may have feeding difficulties. Development of motor skills such as crawling or walking may be delayed. The severity of the myasthenia varies greatly, with some people experiencing minor weakness and others having such severe weakness that they are unable to walk. Some individuals have episodes of breathing problems that may be triggered by fevers or infection. Severely affected individuals may also experience short pauses in breathing (apnea) that can lead to a bluish appearance of the skin or lips (cyanosis).
If you've ever groaned, "Oh, my aching back!", you are not alone. Back pain is one of the most common medical problems, affecting 8 out of 10 people at some point during their lives. Back pain can range from a dull, constant ache to a sudden, sharp pain. Acute back pain comes on suddenly and usually lasts from a few days to a few weeks. Back pain is called chronic if it lasts for more than three months. Most back pain goes away on its own, though it may take awhile. Taking over-the-counter pain relievers and resting can help. However, staying in bed for more than 1 or 2 days can make it worse. If your back pain is severe or doesn't improve after three days, you should call your health care provider. You should also get medical attention if you have back pain following an injury. Treatment for back pain depends on what kind of pain you have, and what is causing it. It may include hot or cold packs, exercise, medicines, injections, complementary treatments, and sometimes surgery. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
People with a 15q24 microdeletion are missing between 1.7 million and 6.1 million DNA building blocks (base pairs), also written as 1.7-6.1 megabases (Mb), at position q24 on chromosome 15. The exact size of the deletion varies, but all individuals are missing the same 1.2 Mb region. This region contains several genes that are thought to be important for normal development. The signs and symptoms that result from a 15q24 microdeletion are probably related to the loss of one or more genes in the deleted region. However, it is unclear which missing genes contribute to the specific features of the disorder.
Researchers are studying the possible causes of Crohns disease. Your bodys natural defense system, called the immune system, protects you from infection by fighting against bacteria, viruses, and other things that can make you sick. Researchers believe that with Crohns disease, the immune system attacks harmless bacteria and viruses. During the attack, white blood cells gather in the intestinal lining. The white blood cells cause chronic inflammation, which leads to ulcers, or sores, and damage to the intestines. Other factors associated with Crohns disease are - genesthe traits passed down from your parents - unknown triggers caused by the environment
These resources address the diagnosis or management of branchio-oculo-facial syndrome: - Gene Review: Gene Review: Branchiooculofacial Syndrome - Genetic Testing Registry: Branchiooculofacial syndrome - MedlinePlus Encyclopedia: Cleft Lip and Palate These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Mutations in the PANK2 gene cause pantothenate kinase-associated neurodegeneration. The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2. This enzyme is active in mitochondria, the energy-producing centers within cells, where it plays a critical role in the formation of a molecule called coenzyme A. Found in all living cells, coenzyme A is essential for the body's production of energy from carbohydrates, fats, and some protein building blocks (amino acids). Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme. A lack of functional pantothenate kinase 2 disrupts the production of coenzyme A and allows potentially harmful compounds to build up in the brain. This buildup leads to swelling and tissue damage, and allows iron to accumulate abnormally in certain parts of the brain. Researchers have not determined how these changes result in the specific features of pantothenate kinase-associated neurodegeneration. Because pantothenate kinase 2 functions in mitochondria, the signs and symptoms of this condition may be related to impaired energy production.
What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from chemotherapy, can cause an acquired pyruvate kinase deficiency. This type is more common and milder than the hereditary type.
Signs and symptoms of metastatic squamous neck cancer with occult primary include a lump or pain in the neck or throat. Check with your doctor if you have a lump or pain in your neck or throat that doesn't go away. These and other signs and symptoms may be caused by metastatic squamous neck cancer with occult primary. Other conditions may cause the same signs and symptoms.
What causes sideroblastic anemia pyridoxine-refractory autosomal recessive? Sideroblastic anemia pyridoxine-refractory autosomal recessive is caused by mutations in the SLC25A38 gene. It is inherited in an autosomal recessive fashion. Click here to learn more about autosomal recessive inheritance.
Scleroderma means hard skin. It is a group of diseases that cause abnormal growth of connective tissue. Connective tissue is the material inside your body that gives your tissues their shape and helps keep them strong. In scleroderma, the tissue gets hard or thick. It can cause swelling or pain in your muscles and joints. Symptoms of scleroderma include - Calcium deposits in connective tissues - Raynaud's phenomenon, a narrowing of blood vessels in the hands or feet - Swelling of the esophagus, the tube between your throat and stomach - Thick, tight skin on your fingers - Red spots on your hands and face No one knows what causes scleroderma. It is more common in women. It can be mild or severe. Doctors diagnose scleroderma using your medical history, a physical exam, lab tests, and a skin biopsy. There is no cure, but various treatments can control symptoms and complications. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
How might Ehlers-Danlos syndrome, vascular type be treated? The treatment and management of Ehlers-Danlos syndrome (EDS), vascular type is focused on relieving associated signs and symptoms and preventing serious complications. For example, people with EDS, vascular type have tissue fragility that puts them at high risk for rupture of arteries, muscles and internal organs. It is, therefore, important to seek immediate medical attention for any sudden, unexplained pain as emergency surgery may be indicated. Pregnant women with EDS, vascular type should be followed by a maternal-fetal specialists at a high-risk perinatal center. Periodic screening may be recommended to diagnose aneurysms or other problems that may not be associated with obvious symptoms. People with the EDS, vascular type should also minimize risk of injury by avoiding contact sports, heavy lifting, and weight training. Elective surgery is also discouraged. GeneReview's Web site offers more specific information about the treatment and management of EDS, vascular type. Please click on the link to access this resource. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
These resources address the diagnosis or management of Blau syndrome: - Genetic Testing Registry: Blau syndrome - Genetic Testing Registry: Sarcoidosis, early-onset - Merck Manual Consumer Version: Overview of Dermatitis - Merck Manual Consumer Version: Uveitis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Polycystic kidney disease refers to a group of inherited kidney disorders characterized by the presence of multiple cysts in both kidneys. Normal kidney tissue is replaced by fluid-filled sacs that interfere with the their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts may also develop in other organs, particularly the liver. However, signs and symptom severity can vary greatly from person to person. Treatment is tailored to the individual based upon their signs and symptoms. The two major forms of polycystic kidney disease are distinguished by the usual age of onset and their pattern of inheritance: (1) Autosomal dominant polycystic kidney disease (ADPKD) is the most common form that usually causes symptoms between the ages of 30 and 40; but they can begin earlier, even in childhood. ADPKD can be further divided into type 1 and type 2, depending on the underlying genetic cause. (2) Autosomal recessive polycystic kidney disease (ARPKD) is a rare form that usually causes symptoms in infancy and early childhood and is often lethal early in life. Some people with ARPKD do not develop symptoms until later in childhood or even adulthood.
Hepatocellular carcinoma, childhood is a rare type of cancer of the liver that affects children. Symptoms may include a mass in the abdomen, swollen abdomen, abdominal pain, weight loss, poor appetite, jaundice, vomiting, fever, itchy skin, anemia, and back pain. Treatment options may vary depending on a variety of factors including the stage of the cancer.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What causes Weill-Marchesani syndrome? Weill-Marchesani syndrome is usually caused by mutations in the ADAMTS10 gene. Two families have been found with mutations in different genes, one with a mutation in FBN1 and one with a mutation in LTBP2.
Sandhoff disease is a rare disorder; its frequency varies among populations. This condition appears to be more common in the Creole population of northern Argentina; the Metis Indians in Saskatchewan, Canada; and people from Lebanon.
Mutations in the ABCA12 gene cause harlequin ichthyosis. The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. This protein plays a major role in the transport of fats (lipids) in the outermost layer of skin (the epidermis). Some mutations in the ABCA12 gene prevent the cell from making any ABCA12 protein. Other mutations lead to the production of an abnormally small version of the protein that cannot transport lipids properly. A loss of functional ABCA12 protein disrupts the normal development of the epidermis, resulting in the hard, thick scales characteristic of harlequin ichthyosis.
When centronuclear myopathy is caused by mutations in the DNM2 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered DNM2 gene in each cell is sufficient to cause the disorder. Rarely, BIN1 gene mutations that are inherited in an autosomal dominant pattern can cause centronuclear myopathy. Centronuclear myopathy caused by TTN gene mutations and most cases caused by BIN1 gene mutations are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Other cases of centronuclear myopathy that are not caused by these genes are typically inherited in an autosomal recessive manner, although some follow an autosomal dominant pattern.
What are the signs and symptoms of Stargardt disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bull's eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Mitochondrial trifunctional protein deficiency is a rare condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of mitochondrial trifunctional protein deficiency may begin during infancy or later in life. Features that occur during infancy include feeding difficulties, lack of energy (lethargy), low blood sugar (hypoglycemia), weak muscle tone (hypotonia), and liver problems. Infants with this disorder are also at high risk for serious heart problems, breathing difficulties, coma, and sudden death. Signs and symptoms of mitochondrial trifunctional protein deficiency that may begin after infancy include hypotonia, muscle pain, a breakdown of muscle tissue, and a loss of sensation in the extremities (peripheral neuropathy). Problems related to mitochondrial trifunctional protein deficiency can be triggered by periods of fasting or by illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe disorder that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections.
Certain factors affect prognosis (chance of recovery). The prognosis (chance of recovery) depends on the following: - The type of germ cell tumor. - The type and level of any tumor markers. - Where the tumor is in the brain or in the spinal cord. - Whether the cancer has spread within the brain and spinal cord or to other parts of the body. - Whether the tumor is newly diagnosed or has recurred (come back) after treatment.
Given that no treatment or specific prophylaxis is presently available, prevention and increased awareness of AHFV are the only recommended measures. Complete control of ticks and interruption of the virus life cycle is impractical; in endemic regions, it is important to avoid tick-infested areas and to limit contact with livestock and domestic animals. Individuals should use tick repellants on skin and clothes and check skin for attached ticks, removing them as soon as possible. Tick collars are available for domestic animals, and dipping in acaricides is effective in killing ticks on livestock. People working with animals or animal products in farms or slaughterhouses should avoid unprotected contact with the blood, fluids, or tissues of any potentially infected or viremic animals.
What causes amyotrophic lateral sclerosis? In approximately 90-95% of cases the cause of amyotrophic lateral sclerosis (ALS) is unknown and is sporadic (occurring in individuals with no history of the condition in the family). The remaining 5-10% of cases are genetic (familial), often occurring in individuals with a family history of the condition. Mutations in any of several genes, including the C9orf72, SOD1, TARDBP, FUS, ANG, ALS2, SETX, and VAPB genes, can cause familial ALS and may contribute to the development of sporadic ALS. About 60% of individuals with familial ALS have an identifiable genetic mutation; the genetic cause in the remaining cases is unknown. The genes associated with ALS appear to play a role in how neurons function or are involved in regulating the production of various proteins. Over the years, various types of environmental exposures have been proposed as possible contributors to the cause of ALS, including mercury, manganese, products used in farming (fertilizers, insecticides, herbicides), and physical and dietary factors. Exposures have been suggested as a possible explanation for the increased incidence of ALS in Gulf War veterans. Further investigation is ongoing.
Is genetic testing available for 15q13.3 microdeletion syndrome? Genetic testing for 15q13.3 microdeletion testing is available. GeneTests lists the names of laboratories that are performing genetic testing for 15q13.3 microdeletion syndrome. To view the contact information for the clinical laboratories conducting testing click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, individuals who are interested in learning more should work with a health care provider or a genetics professional. Click here for a list of online resources for locating a genetics professional near you.
What causes glucose-6-phosphate dehydrogenase (G6PD) deficiency? Glucose-6-phosphate dehydrogenase (G6PD) deficiency is caused by mutations in the G6PD gene. This gene gives the body instructions to make an enzyme called G6PD, which is involved in processing carbohydrates. This enzyme also protects red blood cells from potentially harmful molecules called reactive oxygen species. Chemical reactions involving G6PD produce compounds that prevent reactive oxygen species from building up to toxic levels within red blood cells. Mutations in the G6PD gene lower the amount of G6PD or alter its structure, lessening its ability to play its protective role. As a result, reactive oxygen species can accumulate and damage red blood cells. Factors such as infections, certain drugs, or eating fava beans can increase the levels of reactive oxygen species, causing red blood cells to be destroyed faster than the body can replace them. This reduction of red blood cells causes the signs and symptoms of hemolytic anemia in people with G6PD deficiency.
The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide.
Mal de Meleda is caused by mutations in the SLURP1 gene. This gene provides instructions for making a protein that interacts with other proteins, called receptors, and is likely involved in signaling within cells. Studies show that the SLURP-1 protein can attach (bind) to nicotinic acetylcholine receptors (nAChRs) in the skin. Through interaction with these receptors, the SLURP-1 protein is thought to be involved in controlling the growth and division (proliferation), maturation (differentiation), and survival of skin cells. Mutations in the SLURP1 gene lead to little or no SLURP-1 protein in the body. It is unclear how a lack of this protein leads to the skin problems that occur in mal de Meleda. Researchers speculate that without SLURP-1, the activity of genes controlled by nAChR signaling is altered, leading to overgrowth of skin cells or survival of cells that normally would have died. The excess of cells can result in skin thickening. It is unclear why skin on the hands and feet is particularly affected.
BD is a progressive disease; there is no cure. Changes may be sudden or gradual and then progress in a stepwise manner. BD can often coexist with Alzheimer's disease. Behaviors that slow the progression of high blood pressure, diabetes, and atherosclerosis -- such as eating a healthy diet and keeping healthy wake/sleep schedules, exercising, and not smoking or drinking too much alcohol -- can also slow the progression of BD.
Hirschsprung disease occurs in approximately 1 in 5,000 newborns.
Hidradenitis suppurativa has been reported to run in families. Studies have found that 30 to 40 percent of affected individuals have at least one family member with the disorder. However, this finding may be an underestimate because affected individuals do not always tell their family members that they have the condition, and hidradenitis suppurativa is sometimes misdiagnosed as other skin disorders. In some families, including those with an NCSTN, PSEN1, or PSENEN gene mutation, hidradenitis suppurativa appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the altered gene from a parent who has the condition.
These resources address the diagnosis or management of Treacher Collins syndrome: - Gene Review: Gene Review: Treacher Collins Syndrome - Genetic Testing Registry: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive - Genetic Testing Registry: Treacher Collins syndrome - Genetic Testing Registry: Treacher collins syndrome 1 - Genetic Testing Registry: Treacher collins syndrome 2 - MedlinePlus Encyclopedia: Micrognathia - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears - MedlinePlus Encyclopedia: Treacher-Collins Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care
Chiari malformations are structural defects in the cerebellum, the part of the brain that controls balance. When the indented bony space at the lower rear of the skull is smaller than normal, the cerebellum and brainstem can be pushed downward. The resulting pressure on the cerebellum can block the flow of cerebrospinal fluid (the liquid that surrounds and protects the brain and spinal cord) and can cause a range of symptoms including dizziness, muscle weakness, numbness, vision problems, headache, and problems with balance and coordination. Treatment may require surgery. Many patients with the more severe types of Chiari malformations who undergo surgery see a reduction in their symptoms and/or prolonged periods of relative stability, however paralysis is generally permanent despite surgery. There are four types of Chiari malformations. The types tend to correspond with the degree of severity, with type 1 being the most common and least severe. Some people with type 1 have no symptoms and do not require treatment. Chiari malformation type 1 Chiari malformation type 2 Chiari malformation type 3 Chiari malformation type 4
Split hand foot malformation (SHFM) is a type of birth defect that consists of missing digits (fingers and/or toes), a deep cleft down the center of the hand or foot, and fusion of remaining digits. The severity of this condition varies widely among affected individuals. SHFM is sometimes called ectrodactyly; however, this is a nonspecific term used to describe missing digits. SHFM may occur by itself (isolated) or it may be part of a syndrome with abnormalities in other parts of the body. At least six different forms of isolated SHFM have been described. Each type is associated with a different underlying genetic cause. SHFM1 has been linked to chromosome 7, and SHFM2 is linked to the X chromosome. SHFM3 is caused by a duplication of chromosome 10 at position 10q24. Changes (mutations) in the TP63 gene cause SHFM4. SHFM5 is linked to chromosome 2, and SHFM6 is caused by mutations in the WNT10B gene. SHFM may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.
When headaches occur three or more times a month, preventive treatment is usually recommended. Drug therapy, biofeedback training, stress reduction, and elimination of certain foods from the diet are the most common methods of preventing and controlling migraine and other vascular headaches. Regular exercise, such as swimming or vigorous walking, can also reduce the frequency and severity of migraine headaches. Drug therapy for migraine is often combined with biofeedback and relaxation training. One of the most commonly used drugs for the relief of migraine symptoms is sumatriptan. Drugs used to prevent migraine also include methysergide maleate, which counteracts blood vessel constriction; propranolol hydrochloride, which also reduces the frequency and severity of migraine headaches; ergotamine tartrate, a vasoconstrictor that helps counteract the painful dilation stage of the headache; amitriptyline, an antidepressant; valproic acid, an anticonvulsant; and verapamil, a calcium channel blocker.