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These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester 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
Mild protein S deficiency is estimated to occur in approximately 1 in 500 individuals. Severe protein S deficiency is rare; however, its exact prevalence is unknown.
These resources address the diagnosis or management of Mainzer-Saldino syndrome: - MedlinePlus Encyclopedia: Electroretinography - National Institutes of Diabetes and Digestive and Kidney Diseases: Treatment Methods for Kidney Failure in Children 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 BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell development and leads to a lack of antibodies. Without antibodies, the immune system cannot properly respond to foreign invaders and prevent infection.
Isodicentric chromosome 15 syndrome occurs in about 1 in 30,000 newborns.
Plibblywib disease is characterized by spontaneous sprouting of colorful feathers from earlobes when stressed. Recovery involves daily meditation and avoiding bird watchers who might mistake you for a rare species.
These resources address the diagnosis or management of pseudoxanthoma elasticum: - Gene Review: Gene Review: Pseudoxanthoma Elasticum - Genetic Testing Registry: Pseudoxanthoma elasticum 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
Malonyl-CoA decarboxylase deficiency is a condition that prevents the body from converting certain fats to energy. The signs and symptoms of this disorder typically appear in early childhood. Almost all affected children have delayed development. Additional signs and symptoms can include weak muscle tone (hypotonia), seizures, diarrhea, vomiting, and low blood sugar (hypoglycemia). A heart condition called cardiomyopathy, which weakens and enlarges the heart muscle, is another common feature of malonyl-CoA decarboxylase deficiency.
What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities
HMERF can be caused by a mutation in the TTN gene. This gene provides instructions for making a protein called titin. Titin plays an important role in muscles the body uses for movement (skeletal muscles) and in heart (cardiac) muscle. Within muscle cells, titin is an essential component of structures called sarcomeres. Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of its most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres. The TTN gene mutation responsible for HMERF leads to the production of an altered version of the titin protein. Studies suggest that this change may disrupt titin's interactions with other proteins within sarcomeres and interfere with the protein's role in chemical signaling. Consequently, muscle fibers become damaged and weaken over time. It is unclear why these effects are usually limited to proximal muscles and muscles involved in breathing. Some people with the characteristic features of HMERF do not have identified mutations in the TTN gene. In these cases, the genetic cause of the condition is unknown.
What are the signs and symptoms of pineal cysts? People with pineal cysts generally do not have any signs or symptoms. Occasionally, pineal cysts may cause headaches, hydrocephalus, disturbances in vision (gaze palsy), Parinaud syndrome, and vertigo, in which case they are called symptomatic pineal cysts. Although rare, people with symptomatic pineal cysts may have other symptoms such as difficulty moving (ataxia); mental and emotional disturbances; seizures; sleep (circadian rhythm) troubles; hormonal imbalances that may cause precocious puberty; or secondary parkinsonism.
The prostate is a walnut-shaped gland that is part of the male reproductive system. The main function of the prostate is to make a fluid that goes into semen. Prostate fluid is essential for a mans fertility. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The bladder and urethra are parts of the lower urinary tract. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue, and it is in front of the rectum, just below the bladder. The urethra is the tube that carries urine from the bladder to the outside of the body. In men, the urethra also carries semen out through the penis.
What are the signs and symptoms of Acute alcohol sensitivity ? The Human Phenotype Ontology provides the following list of signs and symptoms for Acute alcohol sensitivity . 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) Delayed oxidation of acetaldehyde - Facial flushing after alcohol intake - 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 Tangier disease: - Genetic Testing Registry: Tangier disease 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
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.
Treatment for a vasculitis syndrome depends upon the specific diagnosis, which can be difficult, as some diseases have similar symptoms of vasculitis. Most of the syndromes respond well to steroid drugs, such as prednisolone. Some may also require treatment with an immunosuppressive drug, such as cyclophosphamide. Aneurysms involved with vasculitis can be treated surgfically.
Summary : Children's healthy development depends on safe and positive experiences when they are very young. If you work or go to school, you want to know that your child is in good hands while you are away. You may choose in-home care, where the caregiver comes to your home. Or your child might go to the caregiver's home. Finally, there are child care centers. You need to choose the one that works for your family. It is important to get to know your child's caregivers. They will be a big part of your child's life. The caregiver's training should involve - Knowledge of how young children learn and grow - Positive, consistent discipline - Knowledge of the signs that a child is sick - Cleanliness and safety practices to help keep kids from getting sick or hurt - Basic first aid
Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly). The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition 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. In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting. The severity of this condition varies widely, even among members of the same family. Some individuals are diagnosed with SCAD deficiency based on laboratory testing but never develop any symptoms of the condition.
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to blister in response to minor injury. Common areas of blistering include the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Some affected people have other health problems such as Crohn's disease, systemic lupus erythematosus, amyloidosis, or multiple myeloma. EBA is not inherited and usually occurs in adulthood. Treatment aims to protect the skin, stop the formation of blisters, and promote healing. Immunosuppressive drugs may be used to reduce the body's autoimmune response.
Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature.
What causes McCune Albright syndrome? McCune Albright syndrome (MAS) is caused by a change (mutation) in the GNAS gene. This gene provides instructions for making part of a protein that ultimately influences many cell functions by regulating hormone activity. GNAS gene mutations that cause MAS result in a protein that causes the enzyme adenylate cyclase to be constantly turned on. This, in turn, leads to over-production of several hormones, resulting in the signs and symptoms of MAS.
Ulcerative colitis (UC) is a disease that causes inflammation and sores, called ulcers, in the lining of the rectum and colon. It is one of a group of diseases called inflammatory bowel disease. UC can happen at any age, but it usually starts between the ages of 15 and 30. It tends to run in families. The most common symptoms are pain in the abdomen and blood or pus in diarrhea. Other symptoms may include - Anemia - Severe tiredness - Weight loss - Loss of appetite - Bleeding from the rectum - Sores on the skin - Joint pain - Growth failure in children About half of people with UC have mild symptoms. Doctors use blood tests, stool tests, colonoscopy or sigmoidoscopy, and imaging tests to diagnose UC. Several types of drugs can help control it. Some people have long periods of remission, when they are free of symptoms. In severe cases, doctors must remove the colon. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Hyperkalemic periodic paralysis affects an estimated 1 in 200,000 people.
Brody myopathy is usually 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. Some people with autosomal recessive Brody myopathy do not have an identified mutation in the ATP2A1 gene; the cause of the disease in these individuals is unknown.
These resources address the diagnosis or management of alternating hemiplegia of childhood: - The Great Ormond Street Hospital - University of Utah School of Medicine 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
Summary : Table salt is made up of the elements sodium and chlorine - the technical name for salt is sodium chloride. Your body needs some sodium to work properly. It helps with the function of nerves and muscles. It also helps to keep the right balance of fluids in your body. Your kidneys control how much sodium is in your body. If you have too much and your kidneys can't get rid it, sodium builds up in your blood. This can lead to high blood pressure. High blood pressure can lead to other health problems. Most people in the U.S. get more sodium in their diets than they need. A key to healthy eating is choosing foods low in salt and sodium. Doctors recommend you eat less than 2.4 grams per day. That equals about 1 teaspoon of table salt a day. Reading food labels can help you see how much sodium is in prepared foods. NIH: National Heart, Lung, and Blood Institute
A sign of mycosis fungoides is a red rash on the skin. Mycosis fungoides may go through the following phases: - Premycotic phase: A scaly, red rash in areas of the body that usually are not exposed to the sun. This rash does not cause symptoms and may last for months or years. It is hard to diagnose the rash as mycosis fungoides during this phase. - Patch phase: Thin, reddened, eczema -like rash. - Plaque phase: Small raised bumps (papules) or hardened lesions on the skin, which may be reddened. - Tumor phase: Tumors form on the skin. These tumors may develop ulcers and the skin may get infected. Check with your doctor if you have any of these signs.
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. In most cases, an affected person has one parent with the condition.
When caused by mutations in the ALS2 gene, juvenile primary lateral sclerosis 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.
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to conduct fundamental research on the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. NINDS-funded scientists are studying the factors that lead to long-lasting nerve pain disorders, and how the affected nerves are related to symptoms of numbness, loss of function, and pain. Researchers also are examining biomechanical stresses that contribute to the nerve damage responsible for symptoms of carpal tunnel syndrome in order to better understand, treat, and prevent it.
Pterygium of the conjunctiva and cornea is a benign (non-cancerous) pink lesion that grows from the conjunctiva onto the cornea. They typically start from on the inner surface of the eye, and grow toward the the pupil. Long term exposure to ultraviolet light has been associated with causing this condition. Depending on the size of the pterygium, a person can experience vision problems. Surgical removal of the pterygium is often not needed unless it is causing irritation or vision loss.
Because myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPN-UC) is a rare disease, little is known about its treatment. Treatment may include the following: - Supportive care treatments to manage problems caused by the disease such as infection, bleeding, and anemia. - Targeted therapy (imatinib mesylate). Check the list of NCI-supported cancer clinical trials that are now accepting patients with myelodysplastic/myeloproliferative neoplasm, unclassifiable. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Children who have nephrotic syndrome may need to make changes to their diet, such as - limiting the amount of sodium, often from salt, they take in each day - reducing the amount of liquids they drink each day - eating a diet low in saturated fat and cholesterol to help control elevated cholesterol levels Parents or caretakers should talk with the childs health care provider before making any changes to the childs diet. More information is provided in the NIDDK health topic, Nutrition for Chronic Kidney Disease in Children.
These resources address the diagnosis or management of popliteal pterygium syndrome: - Gene Review: Gene Review: IRF6-Related Disorders - Genetic Testing Registry: Popliteal pterygium 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
These resources address the diagnosis or management of Krabbe disease: - Baby's First Test - Gene Review: Gene Review: Krabbe Disease - Genetic Testing Registry: Galactosylceramide beta-galactosidase deficiency - MedlinePlus Encyclopedia: Krabbe disease 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
Bladder and bowel problems are among the most upsetting issues people face after cancer treatment. People often feel ashamed or fearful to go out in public, because they worry about having an "accident." This loss of control can happen after treatment for bladder, prostate, colon, rectal, ovarian, or other gynecologic or abdominal cancers. Some surgeries to treat cancer may leave a patient with little or no bladder or bowel control. The opposite problem can happen with some medicines that cause constipation. For some people the problems improve over time, but others may experience long-term issues. It is very important to tell your doctor about any changes in your bladder or bowel habits. Several things may help, such as medications, changes in diet or fluid intake, and exercises. Joining a support group also may be helpful, especially for survivors who have an ostomy (an opening in the body to pass waste material).
Most people with gout have too much uric acid in their blood, a condition called hyperuricemia. Uric acid is a substance that results from the breakdown of purines, which are part of all human tissue and are found in many foods, especially those high in protein. Needle-like crystals of uric acid can build up in the connective tissue, in the joint space between two bones, or both. If too many uric acid crystals form as a result of hyperuricemia, gout can develop.
GLUT1 deficiency syndrome is a rare disorder. Approximately 500 cases have been reported worldwide since the disorder was first identified in 1991. In Australia, the prevalence of the disorder has been estimated at 1 in 90,000 people. However, researchers suggest that the disorder may be underdiagnosed, because many neurological disorders can cause similar symptoms.
Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes which are inherited in an autosomal dominant fashion. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. In these cases, the cause of the condition is unknown. Paralytic crises can be treated with oral or IV potassium. Other management includes prevention of crises and support of specific symptoms.
Lujo hemorrhagic fever (LUHF) occurs in southern Africa. The initial case was certainly infected in Zambia. Field workers Field workers are at greatest risk because of increased human contact with the reservoir rodent population. Sexual partners of field workers may be at greater risk as well. In addition to nosocomial infection in healthcare workers already described, laboratory infections have been frequently described with Arenaviruses and Lujo virus can certainly be transmitted to laboratory workers during manipulation of the virus, especially during experimental infections of rodents.
Branchiooculofacial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth. Only about 50 cases of BOFS had been reported in the medical literature. Like its name implies, BOFS is characterized by skin defects, eye abnormalities, and distinctive facial features. Among the reported cases thus far, the symptoms may vary from mild to severe. BOFS is caused by mutations in the TFAP2A gene and inherited as an autosomal dominant trait.
Periventricular heterotopia is a rare condition. Its incidence is unknown.
How might cerebrotendinous xanthomatosis be treated? Cerebrotendinous xanthomatosis may be treated with chenodeoxycholic acid (CDCA), which has been shown to normalize levels of cholestonal and improve neurologic symptoms. Inhibitors of HMG-CoA reductase may be used alone or in combination with CDCA. They are also effective in decreasing cholestanol concentration and improving clinical symptoms, however these treatments can induce muscle damage. Coenzyme Q10 may improve muscle weakness, and cataract surgery may also be required.
Chronic obstructive pulmonary disease, or COPD, is a progressive lung disease in which the airways of the lungs become damaged, making it harder to breathe. With COPD, airways become blocked, making it harder to get air in and out.
Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, which occurs in people between the ages of 30 and 60, a genetic mutation is usually the cause. Late-onset Alzheimers, which usually develops after age 60, arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Learn more about the genetics of Alzheimers disease. Increasing age is the most important known risk factor for Alzheimer's disease. Lifestyle factors, such as diet and physical exercise, and long-term health conditions, like high blood pressure and diabetes, might also play a role in the risk of developing Alzheimers disease.
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
Potassium-aggravated myotonia is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a mutation in the SCN4A gene from one affected parent. Other cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family.
How is this condition inherited? Focal dermal hypoplasia is caused by mutations in the PORCN gene and is inherited in an X-linked dominant manner. Many cases of focal dermal hypoplasia result from a new mutation and occur in people with no history of the disorder in their family For a woman affected with focal dermal hypoplasia, the theoretical risk of passing the mutation to each of her offspring is 50%; however, many males with this condition do not survive. In addition, there are cases in which a woman may have the focal dermal hypoplasia mutation in some but not all of her egg cells, a condition known as germline mosaicism. In this case the risk of passing along the mutation may be as high as 50% depending on the level of mosaicism. Males with focal dermal hypoplasia typically have the mutation in some but not all of their cells. The risk that a male with FDH will pass the condition on to his daughters may be as high as 100%; men do not pass this condition on to their sons. We recommend discussing specific concerns with a genetics professional, who can help you understand how this condition might be inherited in your family. Click on the following link for resources for finding a genetics professional.
Isolated Duane retraction syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Most commonly, only one eye is affected. About 10 percent of people with isolated Duane retraction syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. About 70 percent of all cases of Duane retraction syndrome are isolated, which means they occur without other signs and symptoms. Duane retraction syndrome can also occur as part of syndromes that affect other areas of the body. For example, Duane-radial ray syndrome is characterized by this eye disorder in conjunction with abnormalities of bones in the arms and hands. Researchers have identified three forms of isolated Duane retraction syndrome, designated types I, II, and III. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward.
A lipoprotein profile will also show the level of triglycerides in your blood. A desirable level is less than 150mg/dL. If the triglycerides in your blood are borderline high (150-199 mg/dL), or high (200 mg/dL or more), you may need treatment.
Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attaching cells to one another (adhesion), signaling between cells, and inflammation. The mutations responsible for inclusion body myopathy 2 reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. As a result, less of this simple sugar is available to attach to cell surface molecules. Researchers are working to determine how a shortage of sialic acid leads to progressive muscle weakness in people with inclusion body myopathy 2. Sialic acid is important for the normal function of many different cells and tissues, so it is unclear why the signs and symptoms of this disorder appear to be limited to the skeletal muscles.
These resources address the diagnosis or management of Townes-Brocks Syndrome: - Gene Review: Gene Review: Townes-Brocks Syndrome - Genetic Testing Registry: Townes syndrome - MedlinePlus Encyclopedia: Ear Disorders (image) - MedlinePlus Encyclopedia: Imperforate Anus 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
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.
Pyruvate kinase deficiency is a genetic blood disorder characterized by low levels of an enzyme called pyruvate kinase, which is used by red blood cells. Without pyruvate kinase, red blood cells break down too easily, resulting in low levels of these cells (hemolytic anemia). The signs and symptoms of the disease may vary greatly from person to person. However, they usually include jaundice, enlargement of the spleen, and mild or severe hemolysis (red cell breakdown), leading to anemia. In some cases, the problems may first appear while in utero, causing a condition in which abnormal amounts of fluid build up in two or more body areas of the fetus (hydrops fetalis). Newborns may present with prolonged jaundice and anemia. Older children may be pale (due to anemia) and have intermittent episodes of jaundice. Mild cases may escape detection until adulthood. Although the anemia tends to stabilize in adulthood, episodes of anemia may occur with acute infections, stress, and pregnancy. Pyruvate kinase deficiency is caused by a mutation in the PKLR gene and is inherited in an autosomal recessive fashion. Treatment remains supportive rather than curative.
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.
Poland syndrome has been estimated to occur in 1 in 20,000 newborns. For unknown reasons, this disorder occurs more than twice as often in males than in females. Poland syndrome may be underdiagnosed because mild cases without hand involvement may never come to medical attention.
Key Points - Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. - Having certain inherited disorders can increase the risk of adult soft tissue sarcoma. - A sign of adult soft tissue sarcoma is a lump or swelling in soft tissue of the body. - Adult soft tissue sarcoma is diagnosed with a biopsy. - Certain factors affect treatment options and prognosis (chance of recovery). Adult soft tissue sarcoma is a disease in which malignant (cancer) cells form in the soft tissues of the body. The soft tissues of the body include the muscles, tendons (bands of fiber that connect muscles to bones), fat, blood vessels, lymph vessels, nerves, and tissues around joints. Adult soft tissue sarcomas can form almost anywhere in the body, but are most common in the head, neck, arms, legs, trunk, and abdomen. There are many types of soft tissue sarcoma. The cells of each type of sarcoma look different under a microscope, based on the type of soft tissue in which the cancer began. See the following PDQ summaries for more information on soft tissue sarcomas: - Childhood Soft Tissue Sarcoma Treatment - Ewing Sarcoma Family of Tumors Treatment - Gastrointestinal Stromal Tumors Treatment - Kaposi Sarcoma Treatment - Uterine Sarcoma Treatment
These resources address the diagnosis or management of Cant syndrome: - Gene Review: Gene Review: Cant syndrome - Genetic Testing Registry: Hypertrichotic osteochondrodysplasia 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
Anemia is a condition in which the body has fewer red blood cells than normal. Red blood cells carry oxygen to tissues and organs throughout the body and enable them to use energy from food. With anemia, red blood cells carry less oxygen to tissues and organsparticularly the heart and brainand those tissues and organs may not function as well as they should.
Most cases of progressive supranuclear palsy are sporadic, which means they occur in people with no history of the disorder in their family. However, some people with this disorder have had family members with related conditions, such as parkinsonism and a loss of intellectual functions (dementia). When progressive supranuclear palsy runs in families, it can 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.
What causes microhydranencephaly? In many cases, the exact, underlying cause of microhydranencephaly is unknown. There are reports of families in which the condition is caused by changes (mutations) in the NDE1 gene. In these rare cases, more than one family member (often a pair of siblings) had the condition.
Crohn's disease is a type of inflammatory bowel disease (IBD), the general name for conditions that cause inflammation in the gastrointestinal (GI) tract. Common signs and symptoms include abdominal pain and cramping, diarrhea, and weight loss. Other general symptoms include feeling tired, nausea and loss of appetite, fever, and anemia. Complications of Crohn's disease may include intestinal blockage, fistulas, anal fissures, ulcers, malnutrition, and inflammation in other areas of the body. Crohn's disease can occur in people of all age groups but is most often diagnosed in young adults. The exact cause is unknown, but is thought to involve both genetic and environmental factors. It appears to run in some families. Treatment is aimed at relieving symptoms and reducing inflammation, but some people require surgery.
Dry mouth can cause several problems, including difficulty tasting, chewing, swallowing, and speaking. Swallowing may be especially difficult for those with too little saliva. For example, people with dry mouth may be unable to swallow dry food at all unless they also drink fluids with food. They also need to take small bites of food and be very aware of chewing and swallowing so they don't choke. Dry mouth may also increase the chance of developing dental decay as well as oral fungal infections such as thrush, which causes painful white patches in the mouth.
How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabilities are addressed by early intervention programs and individualized education strategies. Treatment for serious bleeding depends upon the specific factor deficiency or platelet abnormality. Growth hormone treatment increases growth velocity. More detailed information about treatment for Noonan syndrome can be viewed on the GeneReviews Web site.
There is no vaccine currently available for OHF, but vaccines for tick-borne encephalitis disease (TBE) have been shown to confer some immunity and may be used for high-risk groups. Additionally, utilizing insect repellents and wearing protective clothing in areas where ticks are endemic is recommended.
These resources address the diagnosis or management of nonsyndromic holoprosencephaly: - Gene Review: Gene Review: Holoprosencephaly Overview - Genetic Testing Registry: Holoprosencephaly 1 - Genetic Testing Registry: Holoprosencephaly 10 - Genetic Testing Registry: Holoprosencephaly 2 - Genetic Testing Registry: Holoprosencephaly 3 - Genetic Testing Registry: Holoprosencephaly 4 - Genetic Testing Registry: Holoprosencephaly 5 - Genetic Testing Registry: Holoprosencephaly 6 - Genetic Testing Registry: Holoprosencephaly 7 - Genetic Testing Registry: Holoprosencephaly 8 - Genetic Testing Registry: Holoprosencephaly 9 - Genetic Testing Registry: Holoprosencephaly sequence - Genetic Testing Registry: NODAL-Related Holoprosencephaly 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
What are the signs and symptoms of amelogenesis imperfecta? In general, the both primary and permanent teeth are affected. The enamel tends to be soft and weak, and the teeth appear yellow and damage easily. The defects associated with amelogeneis imperfecta are highly variable and include abnormalities classified as hypoplastic (defects in the amount of enamel), hypomaturation (defect in the final growth and development of the tooth enamel), and hypocalcification (defect in the initial stage of enamel formation followed by defective tooth growth). The enamel in the hypomaturation and hypocalcification types is not mineralized and is thus described as hypomineralized. Traditionally, the diagnosis and classification of amelogenesis imperfecta is based on the clinical presentation and the mode of inheritance. There are four principal types based on the defects in the tooth enamel. These types are subdivided into 14 different subtypes based on the clinical presentation and the mode of inheritance. Detailed information about the signs and symptoms associated with the four major types of amelogenesis imperfecta is available from the UNC School of Dentistry.
Summary : Food provides the energy and nutrients you need to be healthy. Nutrients include proteins, carbohydrates, fats, vitamins, minerals, and water. Healthy eating is not hard. The key is to - Eat a variety of foods, including vegetables, fruits, and whole-grain products - Eat lean meats, poultry, fish, beans, and low-fat dairy products - Drink lots of water - Limit salt, sugar, alcohol, saturated fat, and trans fat in your diet Saturated fats are usually fats that come from animals. Look for trans fat on the labels of processed foods, margarines, and shortenings. Centers for Disease Control and Prevention
What are the signs and symptoms of Essential tremor? The Human Phenotype Ontology provides the following list of signs and symptoms for Essential tremor. 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 dominant inheritance - Dysarthria - Hand tremor - Postural tremor - Progressive - 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.
Cytochrome c oxidase deficiency can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in genes within nuclear DNA, it 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. When this condition is caused by mutations in genes within mtDNA, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children.
How are the respiratory conditions associated with yellow nail syndrome treated? You can find further information on treatment of pleural effusions, bronchitis, sinusitis, and pneumonia at the following links to MedlinePlus.gov, the National Library of Medicine Web site designed to help you research your health questions. Pleural effusions: http://www.nlm.nih.gov/medlineplus/ency/article/000086.htm Bronchitis: http://www.nlm.nih.gov/medlineplus/chronicbronchitis.html Sinusitis: http://www.nlm.nih.gov/medlineplus/sinusitis.html Pneumonia: http://www.nlm.nih.gov/medlineplus/pneumonia.html
Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. The mutations that cause Weyers acrofacial dysostosis result in the production of an abnormal EVC or EVC2 protein. It is unclear how the abnormal proteins lead to the specific signs and symptoms of this condition. Studies suggest that they interfere with Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the teeth, nails, and bones.
What are the signs and symptoms of pilocytic astrocytoma? People with pilocytic astrocytomas might experience symptoms including: headaches, nausea, vomiting, irritability, ataxia (uncoordinated movement or unsteady gait), and vision issues. These symptoms are associated with increased pressure within the skull resulting from the tumor or hydrocephalus.
A person infected with pinworm is often asymptomatic, but itching around the anus is a common symptom. Diagnosis of pinworm can be reached from three simple techniques. The first option is to look for the worms in the perianal reqion 2 to 3 hours after the infected person is asleep. The second option is to touch the perianal skin with transparent tape to collect possible pinworm eggs around the anus first thing in the morning. If a person is infected, the eggs on the tape will be visible under a microscope. The tape method should be conducted on 3 consecutive mornings right after the infected person wakes up and before he/she does any washing. Since anal itching is a common symptom of pinworm, the third option for diagnosis is analyzing samples from under fingernails under a microscope. An infected person who has scratched the anal area may have picked up some pinworm eggs under the nails that could be used for diagnosis. Since pinworm eggs and worms are often sparse in stool, examining stool samples is not recommended. Serologic tests are not available for diagnosing pinworm infections.
Corticosteroid therapy typically helps hasten recovery from most ADEM symptoms. The long-term prognosis for individuals with ADEM is generally favorable. For most individuals, recovery begins within days, and within six months the majority of ADEM patients will have total or near total recoveries. Others may have mild to moderate lifelong impairment ranging from cognitive difficulties, weakness, loss of vision, or numbness. Severe cases of ADEM can be fatal but this is a very rare occurrence. ADEM can recur, usually within months of the initial diagnosis, and is treated by restarting corticosteroids. A small fraction of individuals who are initially diagnosed as having ADEM can go on to develop MS, but there is currently no method or known risk factors to predict whom those individuals will be.
Insulin resistance and prediabetes usually have no symptoms. People may have one or both conditions for several years without knowing they have them. Even without symptoms, health care providers can identify people at high risk by their physical characteristics, also known as risk factors. The section "Who should be tested for prediabetes?" lists these risk factors. People with a severe form of insulin resistance may have dark patches of skin, usually on the back of the neck. Sometimes people have a dark ring around their neck. Dark patches may also appear on elbows, knees, knuckles, and armpits. This condition is called acanthosis nigricans.
Most people with high blood pressure do not have symptoms. In rare cases, high blood pressure can cause headaches. Kidney disease also does not have symptoms in the early stages. A person may have swelling called edema, which happens when the kidneys cannot get rid of extra fluid and salt. Edema can occur in the legs, feet, or ankles and less often in the hands or face. Once kidney function decreases further, symptoms can include - appetite loss - nausea - vomiting - drowsiness or feeling tired - trouble concentrating - sleep problems - increased or decreased urination - generalized itching or numbness - dry skin - headaches - weight loss - darkened skin - muscle cramps - shortness of breath - chest pain
A UTI is diagnosed by testing a sample of your childs urine. The way the urine is collected depends on your childs age: The health care provider looks at the urine sample with a microscope to check for bacteria or pus. The sample is also sent to a lab. The lab performs a urine culture by placing the sample in a tube or dish with a substance that encourages any bacteria present to grow. The bacteria that grow can be identified and tested to see which medicines will work best to treat the infection. A urine culture usually takes 1 to 3 days to complete.
Adrenal crisis is treated with adrenal hormones. People with adrenal crisis need immediate treatment. Any delay can cause death. When people with adrenal crisis are vomiting or unconscious and cannot take their medication, the hormones can be given as an injection. A person with adrenal insufficiency should carry a corticosteroid injection at all times and make sure that others know how and when to administer the injection, in case the person becomes unconscious. The dose of corticosteroid needed may vary with a persons age or size. For example, a child younger than 2 years of age can receive 25 milligrams (mg), a child between 2 and 8 years of age can receive 50 mg, and a child older than 8 years should receive the adult dose of 100 mg.
Lyme disease is caused by a bacterial organism that is transmitted to humans via the bite of an infected tick. Most people with Lyme disease develop a characteristic skin rash around the area of the bite. The rash may feel hot to the touch, and vary in size, shape, and color, but it will often have a "bull's eye" appearance (a red ring with a clear center). However, there are those who will not develop the rash, which can make Lyme disease hard to diagnose because its symptoms and signs mimic those of many other diseases. Anywhere from 7 to 14 days (or in some cases, 30 days) following an infected tick's bite, the first stage of Lyme disease may begin with flu-like symptoms such as fever, chills, swollen lymph nodes, headaches, fatigue, muscle aches, and joint pain. Neurological complications most often occur in the second stage of Lyme disease, with numbness, pain, weakness, Bell's palsy (paralysis of the facial muscles), visual disturbances, and meningitis symptoms such as fever, stiff neck, and severe headache. Other problems, which may not appear until weeks, months, or years after a tick bite, include decreased concentration, irritability, memory and sleep disorders, and nerve damage in the arms and legs.
Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.
Your kidneys make urine by filtering wastes and extra water from your blood. The urine travels from the kidneys to the bladder in two thin tubes called ureters. The ureters are about 8 to 10 inches long. Muscles in the ureter walls tighten and relax to force urine down and away from the kidneys. Small amounts of urine flow from the ureters into the bladder about every 10 to 15 seconds. Sometimes the ureters can become blocked or injured. This can block the flow of urine to the bladder. If urine stands still or backs up the ureter, you may get a urinary tract infections. Doctors diagnose problems with the ureters using different tests. These include urine tests, x-rays, and examination of the ureter 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
Parkinson's disease (PD) belongs to a group of conditions called motor system disorders, which are the result of the loss of dopamine-producing brain cells. The four primary symptoms of PD are tremor, or trembling in hands, arms, legs, jaw, and face; rigidity, or stiffness of the limbs and trunk; bradykinesia, or slowness of movement; and postural instability, or impaired balance and coordination. As these symptoms become more pronounced, patients may have difficulty walking, talking, or completing other simple tasks. PD usually affects people over the age of 60. Early symptoms of PD are subtle and occur gradually. In some people the disease progresses more quickly than in others. As the disease progresses, the shaking, or tremor, which affects the majority of people with PD may begin to interfere with daily activities. Other symptoms may include depression and other emotional changes; difficulty in swallowing, chewing, and speaking; urinary problems or constipation; skin problems; and sleep disruptions. There are currently no blood or laboratory tests that have been proven to help in diagnosing sporadic PD. Therefore the diagnosis is based on medical history and a neurological examination. The disease can be difficult to diagnose accurately. Doctors may sometimes request brain scans or laboratory tests in order to rule out other diseases.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). Signs and symptoms of VLCAD deficiency typically appear during infancy or early childhood and can include low blood sugar (hypoglycemia), lack of energy (lethargy), and muscle weakness. Affected individuals are also at risk for serious complications such as liver abnormalities and life-threatening heart problems. When symptoms begin in adolescence or adulthood, they tend to be milder and usually do not involve the heart. Problems related to VLCAD deficiency can be triggered by periods of fasting, illness, and exercise. 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.
The prevalence of Gillespie syndrome is unknown. Only a few dozen affected individuals have been described in the medical literature. It has been estimated that Gillespie syndrome accounts for about 2 percent of cases of aniridia.
Summary : It's important to recognize and treat mental illnesses in children early on. Once mental illness develops, it becomes a regular part of your child's behavior and is more difficult to treat. But it's not always easy to know when your child has a serious problem. Everyday stresses can cause changes in your child's behavior. For example, getting a new brother or sister or going to a new school may cause a child to temporarily act out. Warning signs that it might be a more serious problem include - Problems in more than one setting (at school, at home, with peers) - Changes in appetite or sleep - Social withdrawal or fear of things he or she did not used to be not afraid of - Returning to behaviors more common in younger children, such as bedwetting - Signs of being upset, such as sadness or tearfulness - Signs of self-destructive behavior, such as head-banging or suddenly getting hurt often - Repeated thoughts of death To diagnose mental health problems, the doctor or mental health specialist looks at your child's signs and symptoms, medical history, and family history. Treatments include medicines and talk therapy. NIH: National Institute of Mental Health
Tremor is an unintentional, somewhat rhythmic, muscle movement involving to-and-fro movements (oscillations) of one or more parts of the body. Essential tremor (previously called benign essential tremor) is the most common form of abnormal tremor. (In some people, tremor is a symptom of a neurological disorder or appears as a side effect of certain drugs.) Although it may be mild and nonprogressive in some people, in others the tremor is slowly progressive, starting on one side of the body but eventually affecting both sides. Hand tremor is most common but the head, arms, voice, tongue, legs, and trunk may also be involved. Hand tremor may cause problems with purposeful movements such as eating, writing, sewing, or shaving. Head tremor may be seen as a "yes-yes" or "no-no" motion. Essential tremor may be accompanied by mild gait disturbance. Heightened emotion, stress, fever, physical exhaustion, or low blood sugar may trigger tremors or increase their severity. There may be mild degeneration in the certain parts of the cerebellum in persons with essential tremor. Onset is most common after age 40, although symptoms can appear at any age. Children of a parent who has essential tremor have up to a 50 percent chance of inheriting the condition. Essential tremor is not associated with any known pathology.
GSD IV is estimated to occur in 1 in 600,000 to 800,000 individuals worldwide. Type IV accounts for roughly 3 percent of all cases of glycogen storage disease.
Mal de Meleda is a rare disorder; its prevalence is unknown. The disorder was first identified on the Croatian island of Mjlet (called Meleda in Italian) and has since been found in populations worldwide.
Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females because in females (who have two X chromosomes), a genetic change would have to occur on both copies of the chromosome to cause the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Blue-yellow color vision defects are inherited in an autosomal dominant pattern, which means one copy of the altered OPN1SW gene in each cell is sufficient to cause the condition. In many cases, an affected person inherits the condition from an affected parent.
How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medications known as dopamine-receptor blocking drugs. Other antipsychotic medications as well as antidepressants and/or sedatives may also be used to treat some affected individuals. Seizures may be treated with anti-convulsants, which may also help to treat psychiatric symptoms. Anti-seizure medications that can can worsen involuntary movements are generally avoided. Dystonia has been treated with botulinum toxin to relax the muscles and reduce spasms. Because of feeding difficulties in some cases, individuals may need to have their nutrition monitored. Nutritional support, supplementation and/or a feeding tube may be necessary in some cases. Additional therapies that may be used to treat affected individuals may include speech therapy, physical therapy and occupational therapy. Mechanical devices, such as braces or a wheelchair, may benefit some people. Computer-assisted speech devices may be necessary in some cases. More detailed information about treatment for neuroacanthocytosis is available on eMedicine's Web site and can be viewed by clicking here.
Paget's disease of bone causes your bones to grow too large and weak. They also might break easily. The disease can lead to other health problems, too, such as arthritis and hearing loss. You can have Paget's disease in any bone, but it is most common in the spine, pelvis, skull, and legs. The disease might affect one or several bones, but not your entire skeleton. More men than women have the disease. It is most common in older people. No one knows what causes Paget's disease. In some cases, a virus might be responsible. It tends to run in families. Many people do not know they have Paget's disease because their symptoms are mild. For others, symptoms can include - Pain - Enlarged bones - Broken bones - Damaged cartilage in joints Doctors use blood tests and imaging tests to diagnose Paget's disease. Early diagnosis and treatment can prevent some symptoms from getting worse. Treatments include medicines and sometimes surgery. A good diet and exercise might also help. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
The NINDS conducts and supports research on disorders of the spinal cord. The goals of this research are to find ways to prevent, treat, and cure these disorders.
Pearson marrow-pancreas syndrome is a rare condition; its prevalence is unknown.
What are the signs and symptoms of Sertoli cell-only syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Sertoli cell-only syndrome. 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 metabolism/homeostasis - Abnormality of the thorax - Gynecomastia - Obesity - 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.
Hypomagnesemia with secondary hypocalcemia is thought to be a rare condition, but its prevalence is unknown.
The National Institute of Neurological Disorders and Stroke (NINDS) supports Pompe research through grants to major research institutions across the country. Research related to Pompe disease is conducted in one of the laboratories of the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) at the National Institutes of Health. Much of Pompe-related research focuses on finding better ways to prevent, treat, and ultimately cure this disorder.
Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Treatment consists of vitamin C supplements taken by mouth.
How might uncombable hair syndrome be treated? There is no definitive treatment for uncombable hair syndrome, but the condition usually improves or resolves on its own with the onset of puberty. Gentle hair care is generally recommended using conditioners and soft brushes, along with avoiding harsh hair treatments such as permanent waves (perms); chemical relaxants; or excessive brushing and blow drying. These strategies may improve the general manageability of the hair, although how well they work is subjective. Another strategy that has been suggested to improve the appearance of the hair is the use of biotin supplements. One case report suggested significant improvement in hair strength and combability, with an increase in rate of growth after 4 months of supplementation.
These resources address the diagnosis or management of Roberts syndrome: - Gene Review: Gene Review: Roberts Syndrome - Genetic Testing Registry: Roberts-SC phocomelia syndrome - MedlinePlus Encyclopedia: Contracture deformity - MedlinePlus Encyclopedia: Microcephaly 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