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Results 1 - 10 of 137 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. Pain Condition Resources From the National Institutes of Health (NIH Pain Consortium)  
    Pain/Related Issues ... Pain ... NIH Pain Consortium ... From the National Institutes of Health
    https://www.painconsortium.nih.gov/.../pain-condition-resources - External Health Links
  4. Dyssynergia Cerebellaris Myoclonica From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    ... disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia.
    https://www.ninds.nih.gov/.../dyssynergia-cerebellaris-myoclonica - External Health Links
  5. 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
  6. 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
  7. 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
  8. Learning about Fragile X Syndrome From the National Institutes of Health (National Human Genome Research Institute)  
    Fragile X syndrome is an inherited intellectual disability caused by a mutation in the FMR1 gene. ... Fragile X Syndrome/Start Here ... Fragile X Syndrome ... National ...
    https://www.genome.gov/Genetic-Disorders/Fragile-X-Syndrome - External Health Links
  9. 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
  10. 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
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