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Results 1 - 10 of 19 for Spastic ataxia 1
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Santorelli FM. Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. Neurology. 2004 Jan 13;62(1):103-6. doi: 10.1212/01.wnl.0000104491. ...
    https://medlineplus.gov/...ive-spastic-ataxia-of-charlevoix-saguenay - Genetics
  2. Spastic paraplegia type 2 
    ... additional features. People with the complex form of spastic paraplegia type 2 ... between the ages of 1 and 5 years; those affected are typically able ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  3. Andermann syndrome 
    ... N, Bouchard JP, Brais B, Rouleau GA. Hereditary ataxia, spastic paraparesis ... callosum. Ann Neurol. 2003 Jul;54(1):9-18. doi: 10.1002/ana.77777. Citation ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  4. Spastic paraplegia type 5A 
    ... EFNS. EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. Eur J Neurol. 2010 Feb;17(2): ... and genetic analysis of Taiwanese patients with hereditary spastic paraplegia type 5. Eur J Neurol. 2015 Jan;22(1):211-4. doi: 10.1111/ene.12407. Epub ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  5. GLUT1 deficiency syndrome 
    ... as stiffness caused by abnormal tensing of the muscles (spasticity), difficulty in coordinating movements (ataxia), and speech difficulties (dysarthria). Some experience episodes of ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  6. Free sialic acid storage disorder 
    ... and symptoms include problems with movement and balance (ataxia); abnormal tensing of the muscles (spasticity); and involuntary slow, writhing movements of the limbs ( ...
    https://medlineplus.gov/.../free-sialic-acid-storage-disorder - Genetics
  7. Transthyretin amyloidosis 
    ... fluid in the brain (hydrocephalus), difficulty coordinating movements (ataxia), muscle stiffness and weakness (spastic paralysis), seizures, and loss of intellectual function (dementia). ...
    https://medlineplus.gov/genetics/condition/transthyretin-amyloidosis - Genetics
  8. Pelizaeus-Merzbacher disease 
    ... related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207- ...
    https://medlineplus.gov/.../condition/pelizaeus-merzbacher-disease - Genetics
  9. CLN11 disease 
    ... new phenotype associated with homozygous GRN mutations: complicated spastic paraplegia. Eur J Neurol. 2017 Jan;24(1):e3-e4. doi: 10.1111/ene.13194. No ...
    https://medlineplus.gov/genetics/condition/cln11-disease - Genetics
  10. 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
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