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Results 1 - 10 of 44 for Ataxia -telangiectasia variant
  1. Episodic ataxia 
    ... the most common form of the condition. Episodic ataxia can be caused by variants (also called mutations) in several genes that play ... in the KCNA1 and CACNA1A genes cause episodic ataxia types 1 and 2, respectively.Variants in the SLC1A3 gene cause episodic ataxia type ...
    https://medlineplus.gov/genetics/condition/episodic-ataxia - 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. 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
  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. 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
  7. 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
  8. 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
  9. Leukoencephalopathy with vanishing white matter 
    ... muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). There may also be some deterioration of mental ... and symptoms of the condition. CACH syndrome Childhood ataxia with central nervous system hypomyelination Cree leukoencephalopathy Myelinosis ...
    https://medlineplus.gov/...ncephalopathy-with-vanishing-white-matter - Genetics
  10. Prion disease 
    ... and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically ... to PrPSc from an outside source. For example, variant Creutzfeldt-Jakob disease (vCJD) is a type of ...
    https://medlineplus.gov/genetics/condition/prion-disease - Genetics
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