نتایج جستجو برای: hereditary ataxia
تعداد نتایج: 100227 فیلتر نتایج به سال:
Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
BACKGROUND Friedreich ataxia is an autosomal recessive hereditary spinocerebellar disorder, characterized by progressive limb and gait ataxia due to proprioceptive loss, often complicated by cardiomyopathy, diabetes and skeletal deformities. Friedreich ataxia is the most common hereditary ataxia, with a reported prevalence of 1:20 000 - 1:50 000 in Central Europe. Previous reports from south No...
Friedreich’s ataxia (FA) is a hereditary spinocerebellar degenerative disease characterised clinically by ataxia, dysarthria, skeletal deformities, and progressive dystrophia of the skeletal muscles. The disease is frequently associated with concentric and, in some cases, eccentric hypertrophic cardiomyopathy. Presentation of a dilated cardiomyopathy with global dysfunction of the myocardium is...
Hereditary paroxysmal ataxia is a rare dominantly inherited disorder characterized by recurrent attacks of cerebellar ataxia, dysarthria, and nystagmus. Each attack lasts from several minutes to few hours or days. Usually there are no motor difficulties between attacks. We report a patient who had had recurrent ataxic episodes since early childhood. Four members of the family over two generatio...
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