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Results 1 - 9 of 9 for Autosomal recessive spinocerebellar ataxia 2
  1. Ataxia with oculomotor apraxia 
    ... with oculomotor apraxia and hypoalbuminemia Genetic Testing Registry: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 Ataxia-oculomotor apraxia 3 Ataxia-oculomotor apraxia type ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  2. TPP1 gene 
    ... JT, van de Warrenburg BP, Maat-Kievit AJ. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum Mutat. 2013 May;34( ...
    https://medlineplus.gov/genetics/gene/tpp1 - Genetics
  3. Primary coenzyme Q10 deficiency 
    ... PDSS1 PDSS2 This condition is inherited in an autosomal recessive pattern, which means both copies of a gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  4. Myoclonic epilepsy myopathy sensory ataxia 
    ... MEMSA. POLG This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics
  5. Friedreich ataxia 
    ... ataxia. FXN This condition is inherited in an autosomal recessive pattern, which means both copies of the gene ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  6. Huntington's disease-like 
    ... the gene. HDL3 is probably inherited in an autosomal recessive pattern, which means both copies of the gene ... disorder. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/huntingtons-disease-like - Genetics
  7. Cerebellar Disorders (National Library of Medicine)  
    When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. ...
    https://medlineplus.gov/cerebellardisorders.html - Health Topics
  8. Ataxias and Cerebellar or Spinocerebellar Degeneration From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their ...
    https://www.ninds.nih.gov/...ebellar-or-spinocerebellar-degeneration - External Health Links
  9. TWNK gene 
    ... stalling. Hum Mol Genet. 2009 Jan 15;18(2):328-40. doi: 10.1093/hmg/ddn359. Epub 2008 Oct ... recessive ataxia syndrome are associated with neuronal complex I ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics