combined stringlengths 74 29.1k |
|---|
<s> [INST] What are the genetic changes related to hereditary sensory and autonomic neuropathy type II ?[/INST] There are two types of HSAN2, called HSAN2A and HSAN2B, each caused by mutations in a different gene. HSAN2A is caused by mutations in the WNK1 gene, and HSAN2B is caused by mutations in the FAM134B gene. Alt... |
<s> [INST] Is hereditary sensory and autonomic neuropathy type II inherited ?[/INST] 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,... |
<s> [INST] What are the treatments for hereditary sensory and autonomic neuropathy type II ?[/INST] These resources address the diagnosis or management of HSAN2: - Gene Review: Gene Review: Hereditary Sensory and Autonomic Neuropathy Type II - Genetic Testing Registry: Hereditary sensory and autonomic neuropathy type... |
<s> [INST] What is (are) immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?[/INST] Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is characterized by the development of multiple autoimmune disorders in affected individuals. Autoimmune disorders occur when the imm... |
<s> [INST] How many people are affected by immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?[/INST] IPEX syndrome is a rare disorder; its prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?[/INST] Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of D... |
<s> [INST] Is immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome inherited ?[/INST] When IPEX syndrome is due to mutations in the FOXP3 gene, it is inherited in an X-linked recessive pattern. The FOXP3 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have... |
<s> [INST] What are the treatments for immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?[/INST] These resources address the diagnosis or management of IPEX syndrome: - Gene Review: Gene Review: IPEX Syndrome - Genetic Testing Registry: Insulin-dependent diabetes mellitus secretory diarrhea sy... |
<s> [INST] What is (are) desmoid tumor ?[/INST] A desmoid tumor is an abnormal growth that arises from connective tissue, which is the tissue that provides strength and flexibility to structures such as bones, ligaments, and muscles. Typically, a single tumor develops, although some people have multiple tumors. The tum... |
<s> [INST] How many people are affected by desmoid tumor ?[/INST] Desmoid tumors are rare, affecting an estimated 1 to 2 per 500,000 people worldwide. In the United States, 900 to 1,500 new cases are diagnosed per year. Sporadic desmoid tumors are more common than those associated with familial adenomatous polyposis.</... |
<s> [INST] What are the genetic changes related to desmoid tumor ?[/INST] Mutations in the CTNNB1 gene or the APC gene cause desmoid tumors. CTNNB1 gene mutations account for around 85 percent of sporadic desmoid tumors. APC gene mutations cause desmoid tumors associated with familial adenomatous polyposis as well as 1... |
<s> [INST] Is desmoid tumor inherited ?[/INST] Most desmoid tumors are sporadic and are not inherited. Sporadic tumors result from gene mutations that occur during a person's lifetime, called somatic mutations. A somatic mutation in one copy of the gene is sufficient to cause the disorder. Somatic mutations in either t... |
<s> [INST] What are the treatments for desmoid tumor ?[/INST] These resources address the diagnosis or management of desmoid tumor: - Dana-Farber Cancer Institute - Desmoid Tumor Research Foundation: About Desmoid Tumors - Genetic Testing Registry: Desmoid disease, hereditary These resources from MedlinePlus offer... |
<s> [INST] What is (are) X-linked sideroblastic anemia ?[/INST] X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia have mature red ... |
<s> [INST] How many people are affected by X-linked sideroblastic anemia ?[/INST] This form of anemia is uncommon. However, researchers believe that it may not be as rare as they once thought. Increased awareness of the disease has led to more frequent diagnoses.</s> |
<s> [INST] What are the genetic changes related to X-linked sideroblastic anemia ?[/INST] Mutations in the ALAS2 gene cause X-linked sideroblastic anemia. The ALAS2 gene provides instructions for making an enzyme called erythroid ALA-synthase, which plays a critical role in the production of heme (a component of the he... |
<s> [INST] Is X-linked sideroblastic anemia inherited ?[/INST] This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each ce... |
<s> [INST] What are the treatments for X-linked sideroblastic anemia ?[/INST] These resources address the diagnosis or management of X-linked sideroblastic anemia: - Genetic Testing Registry: Hereditary sideroblastic anemia - MedlinePlus Encyclopedia: Anemia These resources from MedlinePlus offer information about ... |
<s> [INST] What is (are) GM2-gangliosidosis, AB variant ?[/INST] GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear norma... |
<s> [INST] How many people are affected by GM2-gangliosidosis, AB variant ?[/INST] The AB variant is extremely rare; only a few cases have been reported worldwide.</s> |
<s> [INST] What are the genetic changes related to GM2-gangliosidosis, AB variant ?[/INST] Mutations in the GM2A gene cause GM2-gangliosidosis, AB variant. The GM2A gene provides instructions for making a protein called the GM2 ganglioside activator. This protein is required for the normal function of an enzyme called ... |
<s> [INST] Is GM2-gangliosidosis, AB variant inherited ?[/INST] 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 d... |
<s> [INST] What are the treatments for GM2-gangliosidosis, AB variant ?[/INST] These resources address the diagnosis or management of GM2-gangliosidosis, AB variant: - Genetic Testing Registry: Tay-Sachs disease, variant AB These resources from MedlinePlus offer information about the diagnosis and management of vari... |
<s> [INST] What is (are) CHST3-related skeletal dysplasia ?[/INST] CHST3-related skeletal dysplasia is a genetic condition characterized by bone and joint abnormalities that worsen over time. Affected individuals have short stature throughout life, with an adult height under 4 and a half feet. Joint dislocations, most ... |
<s> [INST] How many people are affected by CHST3-related skeletal dysplasia ?[/INST] The prevalence of CHST3-related skeletal dysplasia is unknown. More than 30 affected individuals have been reported.</s> |
<s> [INST] What are the genetic changes related to CHST3-related skeletal dysplasia ?[/INST] As its name suggests, CHST3-related skeletal dysplasia results from mutations in the CHST3 gene. This gene provides instructions for making an enzyme called C6ST-1, which is essential for the normal development of cartilage. Ca... |
<s> [INST] Is CHST3-related skeletal dysplasia inherited ?[/INST] 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... |
<s> [INST] What are the treatments for CHST3-related skeletal dysplasia ?[/INST] These resources address the diagnosis or management of CHST3-related skeletal dysplasia: - Gene Review: Gene Review: CHST3-Related Skeletal Dysplasia - Genetic Testing Registry: Spondyloepiphyseal dysplasia with congenital joint dislocat... |
<s> [INST] What is (are) multiple cutaneous and mucosal venous malformations ?[/INST] Multiple cutaneous and mucosal venous malformations (also known as VMCM) are bluish patches (lesions) on the skin (cutaneous) and the mucous membranes, such as the lining of the mouth and nose. These lesions represent areas where the ... |
<s> [INST] How many people are affected by multiple cutaneous and mucosal venous malformations ?[/INST] VMCM appears to be a rare disorder, although its prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to multiple cutaneous and mucosal venous malformations ?[/INST] Mutations in the TEK gene (also called the TIE2 gene) cause VMCM. The TEK gene provides instructions for making a protein called TEK receptor tyrosine kinase. This receptor protein triggers chemical signals n... |
<s> [INST] Is multiple cutaneous and mucosal venous malformations inherited ?[/INST] VMCM is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing venous malformations. Some gene mutations are acquired during a person's lifeti... |
<s> [INST] What are the treatments for multiple cutaneous and mucosal venous malformations ?[/INST] These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformatio... |
<s> [INST] What is (are) spondyloepimetaphyseal dysplasia, Strudwick type ?[/INST] Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), skeletal abnormalities, and problems with vision. This condition affects the bones of the spine (spondylo-... |
<s> [INST] How many people are affected by spondyloepimetaphyseal dysplasia, Strudwick type ?[/INST] This condition is rare; only a few affected individuals have been reported worldwide.</s> |
<s> [INST] What are the genetic changes related to spondyloepimetaphyseal dysplasia, Strudwick type ?[/INST] Spondyloepimetaphyseal dysplasia, Strudwick type is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collage... |
<s> [INST] Is spondyloepimetaphyseal dysplasia, Strudwick type inherited ?[/INST] 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.</s> |
<s> [INST] What are the treatments for spondyloepimetaphyseal dysplasia, Strudwick type ?[/INST] These resources address the diagnosis or management of spondyloepimetaphyseal dysplasia, Strudwick type: - Genetic Testing Registry: Spondyloepimetaphyseal dysplasia Strudwick type - MedlinePlus Encyclopedia: Clubfoot - ... |
<s> [INST] What is (are) Simpson-Golabi-Behmel syndrome ?[/INST] Simpson-Golabi-Behmel syndrome is a condition that affects many parts of the body and occurs primarily in males. This condition is classified as an overgrowth syndrome, which means that affected infants are considerably larger than normal at birth (macros... |
<s> [INST] How many people are affected by Simpson-Golabi-Behmel syndrome ?[/INST] The incidence of Simpson-Golabi-Behmel syndrome is unknown. At least 130 people worldwide have been diagnosed with this disorder.</s> |
<s> [INST] What are the genetic changes related to Simpson-Golabi-Behmel syndrome ?[/INST] Mutations in the GPC3 gene are responsible for some cases of Simpson-Golabi-Behmel syndrome. This gene provides instructions for making a protein called glypican 3, which is involved in the regulation of cell growth and division ... |
<s> [INST] Is Simpson-Golabi-Behmel syndrome inherited ?[/INST] This condition is inherited in an X-linked pattern. 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 in each cell. In males (who have only one X chromosome), one ... |
<s> [INST] What are the treatments for Simpson-Golabi-Behmel syndrome ?[/INST] These resources address the diagnosis or management of Simpson-Golabi-Behmel syndrome: - Gene Review: Gene Review: Simpson-Golabi-Behmel Syndrome Type 1 - Genetic Testing Registry: Simpson-Golabi-Behmel syndrome - MedlinePlus Encyclopedia... |
<s> [INST] What is (are) uromodulin-associated kidney disease ?[/INST] Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high b... |
<s> [INST] How many people are affected by uromodulin-associated kidney disease ?[/INST] The prevalence of uromodulin-associated kidney disease is unknown. It accounts for fewer than 1 percent of cases of kidney disease.</s> |
<s> [INST] What are the genetic changes related to uromodulin-associated kidney disease ?[/INST] Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The functi... |
<s> [INST] Is uromodulin-associated kidney disease inherited ?[/INST] 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.</s> |
<s> [INST] What are the treatments for uromodulin-associated kidney disease ?[/INST] These resources address the diagnosis or management of uromodulin-associated kidney disease: - Gene Review: Gene Review: Autosomal Dominant Tubulointerstitial Kidney Disease, UMOD-Related (ADTKD-UMOD) - Genetic Testing Registry: Fami... |
<s> [INST] What is (are) X-linked agammaglobulinemia ?[/INST] X-linked agammaglobulinemia (XLA) is a condition that affects the immune system and occurs almost exclusively in males. People with XLA have very few B cells, which are specialized white blood cells that help protect the body against infection. B cells can m... |
<s> [INST] How many people are affected by X-linked agammaglobulinemia ?[/INST] XLA occurs in approximately 1 in 200,000 newborns.</s> |
<s> [INST] What are the genetic changes related to X-linked agammaglobulinemia ?[/INST] 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 t... |
<s> [INST] Is X-linked agammaglobulinemia inherited ?[/INST] This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell... |
<s> [INST] What are the treatments for X-linked agammaglobulinemia ?[/INST] These resources address the diagnosis or management of X-linked agammaglobulinemia: - Gene Review: Gene Review: X-Linked Agammaglobulinemia - Genetic Testing Registry: X-linked agammaglobulinemia - MedlinePlus Encyclopedia: Agammaglobulinemi... |
<s> [INST] What is (are) juvenile Batten disease ?[/INST] Juvenile Batten disease is an inherited disorder that primarily affects the nervous system. After a few years of normal development, children with this condition develop progressive vision loss, intellectual and motor disability, speech difficulties, and seizure... |
<s> [INST] How many people are affected by juvenile Batten disease ?[/INST] Juvenile Batten disease is the most common type of NCL, but its exact prevalence is unknown. Collectively, all forms of NCL affect an estimated 1 in 100,000 individuals worldwide. NCLs are more common in Finland, where approximately 1 in 12,500... |
<s> [INST] What are the genetic changes related to juvenile Batten disease ?[/INST] Most cases of juvenile Batten disease are caused by mutations in the CLN3 gene. This gene provides instructions for making a protein whose function is unknown. It is unclear how mutations in the CLN3 gene lead to the characteristic fea... |
<s> [INST] Is juvenile Batten disease inherited ?[/INST] 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 s... |
<s> [INST] What are the treatments for juvenile Batten disease ?[/INST] These resources address the diagnosis or management of juvenile Batten disease: - Batten Disease Diagnostic and Clinical Research Center at the University of Rochester Medical Center - Batten Disease Support and Research Association: Centers of E... |
<s> [INST] What is (are) potassium-aggravated myotonia ?[/INST] Potassium-aggravated myotonia is a disorder that affects muscles used for movement (skeletal muscles). Beginning in childhood or adolescence, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relax... |
<s> [INST] How many people are affected by potassium-aggravated myotonia ?[/INST] This condition appears to be rare; it has been reported in only a few individuals and families worldwide.</s> |
<s> [INST] What are the genetic changes related to potassium-aggravated myotonia ?[/INST] Mutations in the SCN4A gene cause potassium-aggravated myotonia. The SCN4A gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal... |
<s> [INST] Is potassium-aggravated myotonia inherited ?[/INST] 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... |
<s> [INST] What are the treatments for potassium-aggravated myotonia ?[/INST] These resources address the diagnosis or management of potassium-aggravated myotonia: - Genetic Testing Registry: Potassium aggravated myotonia These resources from MedlinePlus offer information about the diagnosis and management of variou... |
<s> [INST] What is (are) DICER1 syndrome ?[/INST] DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid (a butterfly-shaped gland in the lower neck). Affect... |
<s> [INST] How many people are affected by DICER1 syndrome ?[/INST] DICER1 syndrome is a rare condition; its prevalence is unknown.</s> |
<s> [INST] What are the genetic changes related to DICER1 syndrome ?[/INST] DICER1 syndrome is caused by mutations in the DICER1 gene. This gene provides instructions for making a protein that is involved in the production of molecules called microRNA (miRNA). MicroRNA is a type of RNA, a chemical cousin of DNA, that a... |
<s> [INST] Is DICER1 syndrome inherited ?[/INST] DICER1 syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder. It is important to note that people inherit an increased risk of tumors; many people who have mutations in the DICER1 gene do not ... |
<s> [INST] What are the treatments for DICER1 syndrome ?[/INST] These resources address the diagnosis or management of DICER1 syndrome: - Cancer.Net from the American Society of Clinical Oncology: Pleuropulmonary Blastoma--Childhood Treatment - Gene Review: Gene Review: DICER1-Related Disorders - Genetic Testing Reg... |
<s> [INST] What is (are) Graves disease ?[/INST] Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and develo... |
<s> [INST] How many people are affected by Graves disease ?[/INST] Graves disease affects about 1 in 200 people. The disease occurs more often in women than in men, which may be related to hormonal factors. Graves disease is the most common cause of thyroid overactivity (hyperthyroidism) in the United States.</s> |
<s> [INST] What are the genetic changes related to Graves disease ?[/INST] Graves disease is thought to result from a combination of genetic and environmental factors. Some of these factors have been identified, but many remain unknown. Graves disease is classified as an autoimmune disorder, one of a large group of co... |
<s> [INST] Is Graves disease inherited ?[/INST] The inheritance pattern of Graves disease is unclear because many genetic and environmental factors appear to be involved. However, the condition can cluster in families, and having a close relative with Graves disease or another autoimmune disorder likely increases a per... |
<s> [INST] What are the treatments for Graves disease ?[/INST] These resources address the diagnosis or management of Graves disease: - American Thyroid Association: Thyroid Function Tests - Genetic Testing Registry: Graves disease 2 - Genetic Testing Registry: Graves disease 3 - Genetic Testing Registry: Graves di... |
<s> [INST] What is (are) McCune-Albright syndrome ?[/INST] McCune-Albright syndrome is a disorder that affects the bones, skin, and several hormone-producing (endocrine) tissues. People with McCune-Albright syndrome develop areas of abnormal scar-like (fibrous) tissue in their bones, a condition called polyostotic fib... |
<s> [INST] How many people are affected by McCune-Albright syndrome ?[/INST] McCune-Albright syndrome occurs in between 1 in 100,000 and 1 in 1,000,000 people worldwide.</s> |
<s> [INST] What are the genetic changes related to McCune-Albright syndrome ?[/INST] McCune-Albright syndrome is caused by a mutation in the GNAS gene. The GNAS gene provides instructions for making one part of a protein complex called a guanine nucleotide-binding protein, or a G protein. In a process called signal tr... |
<s> [INST] Is McCune-Albright syndrome inherited ?[/INST] McCune-Albright syndrome is not inherited. Instead, it is caused by a random mutation in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version... |
<s> [INST] What are the treatments for McCune-Albright syndrome ?[/INST] These resources address the diagnosis or management of McCune-Albright syndrome: - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome - Genetic Testing Registry: McCune-Albright syndrome - MedlinePlus Encyclopedia: McCune-Albr... |
<s> [INST] What is (are) SOST-related sclerosing bone dysplasia ?[/INST] SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of t... |
<s> [INST] How many people are affected by SOST-related sclerosing bone dysplasia ?[/INST] SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is unknown. Approximately 100 individuals with sclerosteosis have been reported in the scientific literature. Sclerosteosis is most common in the A... |
<s> [INST] What are the genetic changes related to SOST-related sclerosing bone dysplasia ?[/INST] SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone... |
<s> [INST] Is SOST-related sclerosing bone dysplasia inherited ?[/INST] 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 typ... |
<s> [INST] What are the treatments for SOST-related sclerosing bone dysplasia ?[/INST] These resources address the diagnosis or management of SOST-related sclerosing bone dysplasia: - Gene Review: Gene Review: SOST-Related Sclerosing Bone Dysplasias - Genetic Testing Registry: Hyperphosphatasemia tarda - Genetic Tes... |
<s> [INST] What is (are) rippling muscle disease ?[/INST] Rippling muscle disease is a condition in which the muscles are unusually sensitive to movement or pressure (irritable). The muscles near the center of the body (proximal muscles) are most affected, especially the thighs. In most people with this condition, stre... |
<s> [INST] How many people are affected by rippling muscle disease ?[/INST] The prevalence of rippling muscle disease is unknown.</s> |
<s> [INST] What are the genetic changes related to rippling muscle disease ?[/INST] Rippling muscle disease can be caused by mutations in the CAV3 gene. Muscle conditions caused by CAV3 gene mutations are called caveolinopathies. The CAV3 gene provides instructions for making a protein called caveolin-3, which is found... |
<s> [INST] Is rippling muscle disease inherited ?[/INST] Rippling muscle disease is usually inherited in an autosomal dominant pattern, but it is occasionally inherited in an autosomal recessive pattern. Autosomal dominant inheritance means that one copy of an altered CAV3 gene in each cell is sufficient to cause the ... |
<s> [INST] What are the treatments for rippling muscle disease ?[/INST] These resources address the diagnosis or management of rippling muscle disease: - Gene Review: Gene Review: Caveolinopathies - Genetic Testing Registry: Rippling muscle disease These resources from MedlinePlus offer information about the diagno... |
<s> [INST] What is (are) juvenile myoclonic epilepsy ?[/INST] Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condit... |
<s> [INST] How many people are affected by juvenile myoclonic epilepsy ?[/INST] Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.</s> |
<s> [INST] What are the genetic changes related to juvenile myoclonic epilepsy ?[/INST] The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and... |
<s> [INST] Is juvenile myoclonic epilepsy inherited ?[/INST] The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is suffi... |
<s> [INST] What are the treatments for juvenile myoclonic epilepsy ?[/INST] These resources address the diagnosis or management of juvenile myoclonic epilepsy: - Genetic Testing Registry: Epilepsy with grand mal seizures on awakening - Genetic Testing Registry: Epilepsy, idiopathic generalized 10 - Genetic Testing R... |
<s> [INST] What is (are) prostate cancer ?[/INST] Prostate cancer is a common disease that affects men, usually in middle age or later. In this disorder, certain cells in the prostate become abnormal and multiply without control or order to form a tumor. The prostate is a gland that surrounds the male urethra and helps... |
<s> [INST] How many people are affected by prostate cancer ?[/INST] About 1 in 7 men will be diagnosed with prostate cancer at some time during their life. In addition, studies indicate that many older men have undiagnosed prostate cancer that is non-aggressive and unlikely to cause symptoms or affect their lifespan. W... |
<s> [INST] What are the genetic changes related to prostate cancer ?[/INST] Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases o... |
<s> [INST] Is prostate cancer inherited ?[/INST] Many cases of prostate cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the prostate. When prostate cancer is related to inherited gene changes, the way that cancer risk is inherite... |
<s> [INST] What are the treatments for prostate cancer ?[/INST] These resources address the diagnosis or management of prostate cancer: - American College of Radiology: Prostate Cancer Radiation Treatment - Genetic Testing Registry: Familial prostate cancer - Genetic Testing Registry: Prostate cancer, hereditary, 2 ... |
<s> [INST] What is (are) maternally inherited diabetes and deafness ?[/INST] Maternally inherited diabetes and deafness (MIDD) is a form of diabetes that is often accompanied by hearing loss, especially of high tones. The diabetes in MIDD is characterized by high blood sugar levels (hyperglycemia) resulting from a shor... |
<s> [INST] How many people are affected by maternally inherited diabetes and deafness ?[/INST] About 1 percent of people with diabetes have MIDD. The condition is most common in the Japanese population and has been found in populations worldwide.</s> |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.