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Results 1 - 9 of 9 for Hereditary ataxia
  1. ... in people with another nervous system disorder called hereditary sensory and ... do not have the ataxia or narcolepsy that occurs in ADCADN, and the ...
  2. ... ER, Smith EA, Kramer P, Litt M. Episodic ataxia/myokymia syndrome is associated ... (KCNA1) mutation in hereditary myokymia. Neurogenetics. 2007 Apr;8(2):131-5. ...
  3. ... SPG7 mutations are a common cause of undiagnosed ataxia. Neurology. 2015 May ... of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5): ...
  4. ... MCOPCB12 ECTOPIA PUPILLAE FOVEAL HYPOPLASIA 1; FVH1 KERATITIS, ... of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. Am J Med Genet A. ...
  5. ... including intellectual disability and difficulty with coordinating movements (ataxia).Most of the ... associated with hereditary nonspherocytic hemolytic anemia (HNSHA). Blood Cells Mol Dis. ...
  6. ... OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND ... of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel ...
  7. ... twitches (myoclonus), muscle weakness (myopathy), difficulty coordinating movement (ataxia), ... family exhibiting hereditary deafness and palmoplantar keratoderma. J Eur Acad Dermatol ...
  8. ... loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay. It ... cause hereditary peripheral neuropathy with hearing loss and optic neuropathy ( ...
  9. ... can include muscle twitches (myoclonus), difficulty coordinating movement (ataxia), and abnormal ... with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet. 2003; ...