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Results 1 - 10 of 10 for Spastic ataxia "9," autosomal recessive
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Charlevoix-Saguenay (ARSACS). J Neurol. 2018 Sep;265(9):2060-2070. doi: 10.1007/s00415-018-8950-4. Epub 2018 Jul 2. Citation on PubMed
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  2. Troyer syndrome 
    ... not show signs and symptoms of the condition. Autosomal recessive spastic paraplegia type 20 Spastic paraparesis, childhood-onset, with distal muscle wasting Spastic paraplegia 20, autosomal recessive Spastic paraplegia, autosomal recessive, Troyer type SPG20 Genetic Testing ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  3. Costeff syndrome 
    ... 3-methylglutaconic aciduria type III Autosomal recessive OPA3 Autosomal recessive optic atrophy 3 Costeff optic atrophy syndrome Infantile optic atrophy with chorea and spastic paraplegia Iraqi Jewish optic atrophy plus MGA, type ...
    https://medlineplus.gov/genetics/condition/costeff-syndrome - Genetics
  4. Andermann syndrome 
    ... peripheral nervous system. Mod Pathol. 2016 Sep;29(9):962-76. doi: 10.1038/modpathol.2016.90. Epub 2016 May 27. Citation on PubMed Dupre N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis and neuropathy in the French-Canadian population. ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  5. GLUT1 deficiency syndrome 
    ... families, GLUT1 deficiency syndrome is inherited in an autosomal recessive pattern, which means both copies of the gene ... variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  6. Purine nucleoside phosphorylase deficiency 
    ... deficiency. PNP 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/...urine-nucleoside-phosphorylase-deficiency - Genetics
  7. Isolated sulfite oxidase deficiency 
    ... form. SUOX 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/.../isolated-sulfite-oxidase-deficiency - Genetics
  8. Free sialic acid storage disorder 
    ... protein. SLC17A5 This condition is 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/.../free-sialic-acid-storage-disorder - Genetics
  9. Ornithine translocase deficiency 
    ... disorders. SLC25A15 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/.../ornithine-translocase-deficiency - Genetics
  10. CLN11 disease 
    ... adulthood. GRN CLN11 disease is inherited in an autosomal recessive pattern, which means both copies of the gene ... gene mutation. Epilepsia. 2014 Jun;55(6):e56-9. doi: 10.1111/epi.12632. Epub 2014 ... GRN mutations: complicated spastic paraplegia. Eur J Neurol. 2017 Jan;24(1): ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics