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Results 11 - 20 of 79 for Ataxia -telangiectasia variant
  1. GLUT1 deficiency syndrome 
    ... intellectual disability. Most have movement problems such as ataxia or ... of GLUT1 deficiency syndrome. These include paroxysmal choreoathetosis ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  2. Tay-Sachs disease 
    ... disease include muscle weakness, loss of muscle coordination (ataxia), speech problems, and ... general population. The genetic variants (also known as mutations) that cause this disease ...
    https://medlineplus.gov/genetics/condition/tay-sachs-disease - Genetics
  3. MT-TS1 gene 
    ... have been found in a few people with variant forms of myoclonic epilepsy with ... hearing loss, seizures, and intellectual impairment. Two mutations ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  4. Neuropathy, ataxia, and retinitis pigmentosa 
    Neuropathy, ataxia, and retinitis pigmentosa (NARP) is a condition that causes a variety of signs and symptoms that mainly affect the nervous system. The condition ...
    https://medlineplus.gov/...europathy-ataxia-and-retinitis-pigmentosa - Genetics
  5. Spinocerebellar ataxia type 6 
    Spinocerebellar ataxia type 6 (SCA6) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Other early signs and symptoms of SCA6 include ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-6 - Genetics
  6. PRRT2 gene 
    ... may have familial hemiplegic migraine. Rarely, PRRT2 gene variants are ... as episodic ataxia). Sometimes, an affected individual has the features of ...
    https://medlineplus.gov/genetics/gene/prrt2 - Genetics
  7. Degenerative Nerve Diseases (National Library of Medicine)  
    ... diseases include: Alzheimer's disease Amyotrophic lateral sclerosis Friedreich ataxia Huntington's disease Lewy body disease Parkinson's disease Spinal ...
    https://medlineplus.gov/degenerativenervediseases.html - Health Topics
  8. Sandhoff disease 
    ... function (dementia), seizures, and loss of muscle coordination (ataxia). Adult Sandhoff disease ... Sandhoff disease is caused by variants (also known as mutations) in the HEXB gene. ...
    https://medlineplus.gov/genetics/condition/sandhoff-disease - Genetics
  9. Succinic semialdehyde dehydrogenase deficiency 
    ... semialdehyde dehydrogenase deficiency experience seizures, difficulty coordinating movements ... Variants (also called mutations) in the ALDH5A1 gene cause ...
    https://medlineplus.gov/...nic-semialdehyde-dehydrogenase-deficiency - Genetics
  10. Huntington's disease-like 
    ... Huntington's disease who do not have a variant (also called mutation) in the ... as spinocerebellar ataxia type 17 (SCA17). HDL1, HDL2, and HDL4 usually ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease-like - Genetics
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