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Results 1 - 10 of 87 for Progressive truncal ataxia
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  1. PRICKLE1-related progressive myoclonus epilepsy with ataxia 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/...rogressive-myoclonus-epilepsy-with-ataxia - Genetics
  2. CACNA1A gene 
    ... variants. The major features of this condition include progressive ataxia, nystagmus, and impaired speech (dysarthria), most often beginning ... JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology. 2005 Jun ...
    https://medlineplus.gov/genetics/gene/cacna1a - Genetics
  3. FOLR1 gene 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a ...
    https://medlineplus.gov/genetics/gene/folr1 - Genetics
  4. Cerebral folate transport deficiency 
    ... M, Garcia-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic epilepsy in a patient with a ...
    https://medlineplus.gov/.../cerebral-folate-transport-deficiency - Genetics
  5. PRICKLE1 gene 
    ... mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. Am J Hum Genet. 2008 Nov;83( ...
    https://medlineplus.gov/genetics/gene/prickle1 - Genetics
  6. COQ8B gene 
    ... Smeets H. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy. Mitochondrion. 2010 Aug;10(5):510- ...
    https://medlineplus.gov/genetics/gene/coq8b - Genetics
  7. Infantile-onset spinocerebellar ataxia 
    Infantile-onset spinocerebellar ataxia (IOSCA) is a progressive disorder that affects the nervous system. Babies with IOSCA develop normally during the first year of life. During early ...
    https://medlineplus.gov/.../infantile-onset-spinocerebellar-ataxia - Genetics
  8. FMR1 gene 
    ... tremor/ataxia syndrome (FXTAS). FXTAS is characterized by progressive problems with movement (ataxia), tremor, memory loss, reduced sensation in the lower ...
    https://medlineplus.gov/genetics/gene/fmr1 - Genetics
  9. ATM gene 
    ... cause ataxia-telangiectasia. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood. People with this disorder ...
    https://medlineplus.gov/genetics/gene/atm - Genetics
  10. Ataxia-telangiectasia 
    ... other body systems. This disorder is characterized by progressive difficulty with coordinating movements (ataxia) beginning in early childhood, usually before age 5. ...
    https://medlineplus.gov/genetics/condition/ataxia-telangiectasia - Genetics
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