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Results 1 - 10 of 16 for Spastic ataxia 5
  1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay 
    ... Topaloglu H. Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. Neurogenetics. 2004 Sep;5(3):165-70. doi: 10.1007/s10048-004- ...
    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 ... the ages of 1 and 5 years; those affected are typically able to walk ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-2 - Genetics
  3. Spastic paraplegia type 7 
    ... SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May ... mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973- ...
    https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-7 - Genetics
  4. Spastic paraplegia type 5A 
    ... MT. Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clin Genet. 2012 Feb; ... mutations in pure and complex forms of hereditary spastic paraplegia type 5. Brain. 2009 Jun;132(Pt 6):1589-600. ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-5a - Genetics
  5. Andermann syndrome 
    ... 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
  6. 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
  7. Fatty acid hydroxylase-associated neurodegeneration 
    ... neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias. Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211. No ...
    https://medlineplus.gov/...-hydroxylase-associated-neurodegeneration - Genetics
  8. Sialic acid storage disease 
    ... developmental delay, seizures, problems with movement and balance (ataxia), abnormal tensing of the muscles (spasticity), and involuntary slow, sinuous movements of the limbs ( ...
    https://medlineplus.gov/.../condition/sialic-acid-storage-disease - Genetics
  9. 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
  10. 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
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