Dipak-001/mistril_dataset huggingface dataset:
user: What is (are) nonsyndromic hearing loss ?

assistant: Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. In contrast, syndromic hearing loss occurs with signs and symptoms affecting other parts of the body.  Nonsyndromic hearing loss can be classified in several different ways. One common way is by the condition's pattern of inheritance: autosomal dominant (DFNA), autosomal recessive (DFNB), X-linked (DFNX), or mitochondrial (which does not have a special designation). Each of these types of hearing loss includes multiple subtypes. DFNA, DFNB, and DFNX subtypes are numbered in the order in which they were first described. For example, DFNA1 was the first type of autosomal dominant nonsyndromic hearing loss to be identified. The various inheritance patterns of nonsyndromic hearing loss are described in more detail below.  The characteristics of nonsyndromic hearing loss vary among the different types. Hearing loss can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The term "deafness" is often used to describe severe-to-profound hearing loss. Hearing loss can be stable, or it may be progressive, becoming more severe as a person gets older. Particular types of nonsyndromic hearing loss show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.  Most forms of nonsyndromic hearing loss are described as sensorineural, which means they are associated with a permanent loss of hearing caused by damage to structures in the inner ear. The inner ear processes sound and sends the information to the brain in the form of electrical nerve impulses. Less commonly, nonsyndromic hearing loss is described as conductive, meaning it results from changes in the middle ear. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic hearing loss, particularly a type called DFNX2, involve changes in both the inner ear and the middle ear. This combination is called mixed hearing loss.  Depending on the type, nonsyndromic hearing loss can become apparent at any time from infancy to old age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.
user: How many people are affected by nonsyndromic hearing loss ?

assistant: Between 2 and 3 per 1,000 children in the United States are born with detectable hearing loss in one or both ears. The prevalence of hearing loss increases with age; the condition affects 1 in 8 people in the United States age 12 and older, or about 30 million people. By age 85, more than half of all people experience hearing loss.
user: Is nonsyndromic hearing loss inherited ?

assistant: As discussed above, nonsyndromic hearing loss has different patterns of inheritance. Between 75 and 80 percent of cases are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. Usually, each parent of an individual with autosomal recessive hearing loss carries one copy of the mutated gene but does not have hearing loss.  Another 20 to 25 percent of nonsyndromic hearing loss has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the condition. Most people with autosomal dominant hearing loss inherit an altered copy of the gene from a parent who also has hearing loss.  Between 1 and 2 percent of cases have an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. Males with X-linked nonsyndromic hearing loss tend to develop more severe hearing loss earlier in life than females who inherit a copy of the same gene mutation. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  Mitochondrial forms of the condition, which result from changes to mtDNA, account for less than 1 percent of all nonsyndromic hearing loss in the United States. These cases are 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.  In some cases, hearing loss occurs in people with no history of the condition in their family. These cases are described as sporadic, and the cause of the hearing loss is often unknown. When hearing loss results from environmental factors, it is not inherited.
user: What are the treatments for nonsyndromic hearing loss ?

assistant: These resources address the diagnosis or management of nonsyndromic hearing loss:  - Baby's First Test: Hearing Loss  - Gene Review: Gene Review: Deafness and Hereditary Hearing Loss Overview  - Genetic Testing Registry: Deafness, X-linked  - Genetic Testing Registry: Hereditary hearing loss and deafness  - Genetic Testing Registry: Non-syndromic genetic deafness  - MedlinePlus Encyclopedia: Age-related hearing loss  - MedlinePlus Encyclopedia: Audiology  - MedlinePlus Encyclopedia: Hearing loss  - MedlinePlus Encyclopedia: Hearing or speech impairment - resources   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
user: What is (are) congenital contractural arachnodactyly ?

assistant: Congenital contractural arachnodactyly is a disorder that affects many parts of the body. People with this condition typically are tall with long limbs (dolichostenomelia) and long, slender fingers and toes (arachnodactyly). They often have permanently bent joints (contractures) that can restrict movement in their hips, knees, ankles, or elbows. Additional features of congenital contractural arachnodactyly include underdeveloped muscles, a rounded upper back that also curves to the side (kyphoscoliosis), permanently bent fingers and toes (camptodactyly), ears that look "crumpled," and a protruding chest (pectus carinatum). Rarely, people with congenital contractural arachnodactyly have heart defects such as an enlargement of the blood vessel that distributes blood from the heart to the rest of the body (aortic root dilatation) or a leak in one of the valves that control blood flow through the heart (mitral valve prolapse). The life expectancy of individuals with congenital contractural arachnodactyly varies depending on the severity of symptoms but is typically not shortened.  A rare, severe form of congenital contractural arachnodactyly involves both heart and digestive system abnormalities in addition to the skeletal features described above; individuals with this severe form of the condition usually do not live past infancy.
user: How many people are affected by congenital contractural arachnodactyly ?

assistant: The prevalence of congenital contractural arachnodactyly is estimated to be less than 1 in 10,000 worldwide.
user: What are the genetic changes related to congenital contractural arachnodactyly ?

assistant: Mutations in the FBN2 gene cause congenital contractural arachnodactyly. The FBN2 gene provides instructions for producing the fibrillin-2 protein. Fibrillin-2 binds to other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue that supports the body's joints and organs. Additionally, microfibrils regulate the activity of molecules called growth factors. Growth factors enable the growth and repair of tissues throughout the body.  Mutations in the FBN2 gene can decrease fibrillin-2 production or result in the production of a protein with impaired function. As a result, microfibril formation is reduced, which probably weakens the structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly.
user: Is congenital contractural arachnodactyly inherited ?

assistant: 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.
user: What are the treatments for congenital contractural arachnodactyly ?

assistant: These resources address the diagnosis or management of congenital contractural arachnodactyly:  - Gene Review: Gene Review: Congenital Contractural Arachnodactyly  - Genetic Testing Registry: Congenital contractural arachnodactyly  - MedlinePlus Encyclopedia: Arachnodactyly  - MedlinePlus Encyclopedia: Contracture Deformity  - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities   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
user: What is (are) Joubert syndrome ?

assistant: Joubert syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.  The hallmark feature of Joubert syndrome is a brain abnormality called the molar tooth sign, which can be seen on brain imaging studies such as magnetic resonance imaging (MRI). This sign results from the abnormal development of regions near the back of the brain called the cerebellar vermis and the brainstem. The molar tooth sign got its name because the characteristic brain abnormalities resemble the cross-section of a molar tooth when seen on an MRI.  Most infants with Joubert syndrome have weak muscle tone (hypotonia) in infancy, which evolves into difficulty coordinating movements (ataxia) in early childhood. Other characteristic features of the condition include episodes of unusually fast or slow breathing in infancy and abnormal eye movements. Most affected individuals have delayed development and intellectual disability, which range from mild to severe. Distinctive facial features are also characteristic of Joubert syndrome; these include a broad forehead, arched eyebrows, droopy eyelids (ptosis), widely spaced eyes, low-set ears, and a triangle-shaped mouth.  Joubert syndrome can include a broad range of additional signs and symptoms. The condition is sometimes associated with other eye abnormalities (such as retinal dystrophy, which can cause vision loss), kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), and hormone (endocrine) problems. When the characteristic features of Joubert syndrome occur in combination with one or more of these additional signs and symptoms, researchers refer to the condition as "Joubert syndrome and related disorders (JSRD)."
user: How many people are affected by Joubert syndrome ?

assistant: Joubert syndrome is estimated to affect between 1 in 80,000 and 1 in 100,000 newborns. However, this estimate may be too low because Joubert syndrome has such a large range of possible features and is likely underdiagnosed.
user: What are the genetic changes related to Joubert syndrome ?

assistant: Joubert syndrome and related disorders can be caused by mutations in at least 10 genes. The proteins produced from these genes are known or suspected to play roles in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells and are involved in chemical signaling. Cilia are important for the structure and function of many types of cells, including brain cells (neurons) and certain cells in the kidneys and liver. Cilia are also necessary for the perception of sensory input (such as sight, hearing, and smell).  Mutations in the genes associated with Joubert syndrome and related disorders lead to problems with the structure and function of cilia. Defects in these cell structures probably disrupt important chemical signaling pathways during development. Although researchers believe that defective cilia are responsible for most of the features of these disorders, it remains unclear how they lead to specific developmental abnormalities.  Mutations in the 10 genes known to be associated with Joubert syndrome and related disorders only account for about half of all cases of these conditions. In the remaining cases, the genetic cause is unknown.
user: Is Joubert syndrome inherited ?

assistant: Joubert syndrome typically has an autosomal recessive pattern of inheritance, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition.  Rare cases of Joubert syndrome are inherited in an X-linked recessive pattern. In these cases, the causative gene 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 is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
user: What are the treatments for Joubert syndrome ?

assistant: These resources address the diagnosis or management of Joubert syndrome:  - Gene Review: Gene Review: Joubert Syndrome and Related Disorders  - Genetic Testing Registry: Familial aplasia of the vermis  - Genetic Testing Registry: Joubert syndrome 10  - Genetic Testing Registry: Joubert syndrome 2  - Genetic Testing Registry: Joubert syndrome 3  - Genetic Testing Registry: Joubert syndrome 4  - Genetic Testing Registry: Joubert syndrome 5  - Genetic Testing Registry: Joubert syndrome 6  - Genetic Testing Registry: Joubert syndrome 7  - Genetic Testing Registry: Joubert syndrome 8  - Genetic Testing Registry: Joubert syndrome 9   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
user: What is (are) fibrodysplasia ossificans progressiva ?

assistant: Fibrodysplasia ossificans progressiva (FOP) is a disorder in which muscle tissue and connective tissue such as tendons and ligaments are gradually replaced by bone (ossified), forming bone outside the skeleton (extra-skeletal or heterotopic bone) that constrains movement. This process generally becomes noticeable in early childhood, starting with the neck and shoulders and proceeding down the body and into the limbs.  Extra-skeletal bone formation causes progressive loss of mobility as the joints become affected. Inability to fully open the mouth may cause difficulty in speaking and eating. Over time, people with this disorder may experience malnutrition due to their eating problems. They may also have breathing difficulties as a result of extra bone formation around the rib cage that restricts expansion of the lungs.  Any trauma to the muscles of an individual with fibrodysplasia ossificans progressiva, such as a fall or invasive medical procedures, may trigger episodes of muscle swelling and inflammation (myositis) followed by more rapid ossification in the injured area. Flare-ups may also be caused by viral illnesses such as influenza.  People with fibrodysplasia ossificans progressiva are generally born with malformed big toes. This abnormality of the big toes is a characteristic feature that helps to distinguish this disorder from other bone and muscle problems. Affected individuals may also have short thumbs and other skeletal abnormalities.
user: How many people are affected by fibrodysplasia ossificans progressiva ?

assistant: Fibrodysplasia ossificans progressiva is a very rare disorder, believed to occur in approximately 1 in 2 million people worldwide. Several hundred cases have been reported.
user: What are the genetic changes related to fibrodysplasia ossificans progressiva ?

assistant: Mutations in the ACVR1 gene cause fibrodysplasia ossificans progressiva.  The ACVR1 gene provides instructions for producing a member of a protein family called bone morphogenetic protein (BMP) type I receptors. The ACVR1 protein is found in many tissues of the body including skeletal muscle and cartilage. It helps to control the growth and development of the bones and muscles, including the gradual replacement of cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood.  Researchers believe that a mutation in the ACVR1 gene may change the shape of the receptor under certain conditions and disrupt mechanisms that control the receptor's activity. As a result, the receptor may be constantly turned on (constitutive activation). Constitutive activation of the receptor causes overgrowth of bone and cartilage and fusion of joints, resulting in the signs and symptoms of fibrodysplasia ossificans progressiva.
user: Is fibrodysplasia ossificans progressiva inherited ?

assistant: 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.  Most cases of fibrodysplasia ossificans progressiva result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. In a small number of cases, an affected person has inherited the mutation from one affected parent.
user: What are the treatments for fibrodysplasia ossificans progressiva ?

assistant: These resources address the diagnosis or management of fibrodysplasia ossificans progressiva:  - Genetic Testing Registry: Progressive myositis ossificans   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
user: What is (are) ataxia with oculomotor apraxia ?

assistant: Ataxia with oculomotor apraxia is a condition characterized by progressive problems with movement. The hallmark of this condition is difficulty coordinating movements (ataxia), which is often the first symptom. Most affected people also have oculomotor apraxia, which makes it difficult to move their eyes side-to-side. People with oculomotor apraxia have to turn their head to see things in their side (peripheral) vision.  There are multiple types of ataxia with oculomotor apraxia. The types are very similar but are caused by mutations in different genes. The two most common types (types 1 and 2) share features, in addition to ataxia and oculomotor apraxia, that include involuntary jerking movements (chorea), muscle twitches (myoclonus), and disturbances in nerve function (neuropathy). In type 1, ataxia beings around age 4; in type 2, ataxia begins around age 15. Chorea and myoclonus tend to disappear gradually in type 1; these movement problems persist throughout life in type 2. Individuals with type 1 often develop wasting (atrophy) in their hands and feet, which further impairs movement. Nearly all individuals with ataxia with oculomotor apraxia develop neuropathy, which leads to absent reflexes and weakness. Neuropathy causes many individuals with this condition to require wheelchair assistance, typically 10 to 15 years after the start of movement problems. Intelligence is usually not affected by this condition, but some people have intellectual disability.  People with ataxia with oculomotor apraxia type 1 tend to have decreased amounts of a protein called albumin, which transports molecules in the blood. This decrease in albumin likely causes an increase in the amount of cholesterol circulating in the bloodstream. Increased cholesterol levels may raise a person's risk of developing heart disease. People with ataxia with oculomotor apraxia type 2 have increased blood cholesterol, but they have normal albumin levels. Individuals with type 2 tend to have high amounts of a protein called alpha-fetoprotein (AFP) in their blood. (An increase in the level of this protein is normally seen in the bloodstream of pregnant women.) Affected individuals may also have high amounts of a protein called creatine phosphokinase (CPK) in their blood. This protein is found mainly in muscle tissue. The effect of abnormally high levels of AFP or CPK in people with ataxia with oculomotor apraxia type 2 is unknown.
user: How many people are affected by ataxia with oculomotor apraxia ?

assistant: Ataxia with oculomotor apraxia is a rare condition. Type 1 is a common form of ataxia in Portugal and Japan. Type 2 is estimated to occur in 1 in 900,000 individuals worldwide.
user: What are the genetic changes related to ataxia with oculomotor apraxia ?

assistant: Mutations in the APTX and SETX genes cause ataxia with oculomotor apraxia types 1 and 2, respectively. These genes provide instructions for making proteins that are involved in DNA repair.  Mutations in the APTX or SETX gene decrease the amount of functional protein that is available to repair damaged DNA, which leads to the accumulation of breaks in DNA. These breaks can be caused by natural and medical radiation or other environmental exposures, and also occur when chromosomes exchange genetic material in preparation for cell division. DNA damage that is not repaired causes the cell to be unstable and can lead to cell death. It is thought that nerve cells in the brain are particularly affected by cell death because these cells do not copy (replicate) themselves to replace cells that have been lost. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia.  Mutations in other genes are responsible for the rare types of ataxia with oculomotor apraxia.
user: Is ataxia with oculomotor apraxia inherited ?

assistant: 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.
user: What are the treatments for ataxia with oculomotor apraxia ?

assistant: These resources address the diagnosis or management of ataxia with oculomotor apraxia:  - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 1  - Gene Review: Gene Review: Ataxia with Oculomotor Apraxia Type 2  - Genetic Testing Registry: Adult onset ataxia with oculomotor apraxia  - Genetic Testing Registry: Ataxia-oculomotor apraxia 3  - Genetic Testing Registry: Ataxia-oculomotor apraxia 4  - Genetic Testing Registry: Spinocerebellar ataxia autosomal recessive 1  - MedlinePlus Encyclopedia: Apraxia   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