Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 3 of 3 for Spinocerebellar "ataxia," autosomal recessive 29
  1. Primary coenzyme Q10 deficiency 
    Primary coenzyme Q10 deficiency is a disorder that can affect many parts of the body, especially the brain, muscles, and kidneys. As its name suggests, the disorder ...
    https://medlineplus.gov/.../primary-coenzyme-q10-deficiency - Genetics
  2. TWNK gene 
    ... doi: 10.1212/WNL.0000000000001036. Epub 2014 Oct 29. Citation on PubMed or Free ... by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum ...
    https://medlineplus.gov/genetics/gene/twnk - Genetics
  3. Myoclonic epilepsy myopathy sensory ataxia 
    ... mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. MEMSA SCAE Spinocerebellar ataxia with epilepsy Genetic Testing Registry: Spinocerebellar ataxia with ...
    https://medlineplus.gov/...yoclonic-epilepsy-myopathy-sensory-ataxia - Genetics