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Hereditary ataxia
- ... in people with another nervous system disorder called hereditary sensory and ... do not have the ataxia or narcolepsy that occurs in ADCADN, and the ...
- ... 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. ...
- ... 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): ...
- ... 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. ...
- ... including intellectual disability and difficulty with coordinating movements (ataxia).Most of the ... associated with hereditary nonspherocytic hemolytic anemia (HNSHA). Blood Cells Mol Dis. ...
- ... OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND ... of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel ...
- ... twitches (myoclonus), muscle weakness (myopathy), difficulty coordinating movement (ataxia), ... family exhibiting hereditary deafness and palmoplantar keratoderma. J Eur Acad Dermatol ...
- ... loss), weak muscle tone (hypotonia), impaired muscle coordination (ataxia), and developmental delay. It ... cause hereditary peripheral neuropathy with hearing loss and optic neuropathy ( ...
- ... can include muscle twitches (myoclonus), difficulty coordinating movement (ataxia), and abnormal ... with Leber's hereditary optic neuropathy and cardiomyopathy. J Hum Genet. 2003; ...