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Results 11 - 20 of 23 for Spastic ataxia 3
  1. Troyer syndrome 
    ... involve the legs and the bladder. Complex hereditary spastic paraplegias may include additional signs and symptoms such as intellectual disabilities, problems with coordination and balance (ataxia), and damage to the nerves that connect the ...
    https://medlineplus.gov/genetics/condition/troyer-syndrome - Genetics
  2. Costeff syndrome 
    ... 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
  3. PNPLA6 gene 
    ... above), Oliver-McFarlane syndrome, Laurence-Moon syndrome, and spastic paraplegia type 39. PNPLA6-related disorders feature combinations of overlapping signs and symptoms, including ataxia, muscle stiffness (spasticity), abnormally fast (brisk) reflexes, reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  4. TUBB4A-related leukodystrophy 
    ... muscle stiffness and paralysis of the lower limbs (spastic paraplegia) that slowly worsen. In addition, these individuals may have mild hypomyelination and ataxia without the other movement or learning problems common ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  5. Purine nucleoside phosphorylase deficiency 
    ... Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 Jun;22(6):741-3. doi: 10.1177/0883073807302617. Citation on PubMed Somech ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  6. PNP gene 
    ... Purine nucleoside phosphorylase deficiency in a patient with spastic paraplegia and recurrent infections. J Child Neurol. 2007 Jun;22(6):741-3. doi: 10.1177/0883073807302617. Citation on PubMed Somech ...
    https://medlineplus.gov/genetics/gene/pnp - Genetics
  7. 3-methylglutaconyl-CoA hydratase deficiency 
    ... progressive problems with speech (dysarthria), difficulty coordinating movements (ataxia), stiffness (spasticity), optic atrophy, and a decline in intellectual function (dementia).Affected individuals who show symptoms of 3-methylglutaconyl-CoA hydratase deficiency in childhood often go ...
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency - Genetics
  8. Fatty acid hydroxylase-associated neurodegeneration 
    ... 005. Citation on PubMed Schneider SA, Bhatia KP. Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010 Nov;68(5):575- ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  9. SPG7 gene 
    ... DF. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. doi: 10.1007/s004399900087. Citation on PubMed SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May 5;84(18):1911. doi: ...
    https://medlineplus.gov/genetics/gene/spg7 - Genetics
  10. Pelizaeus-Merzbacher disease 
    ... Neurol Sci. 2005 Feb 15;228(2):201-3. doi: 10.1016/j.jns.2004.10.010. Epub 2004 Dec 16. No abstract available. Citation on PubMed Inoue K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1): ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
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