Inclusion Body Myopathy-Like Changes in a Family with Cerebellar Atrophy, Mental Retardation and Abnormal Pupils
نویسندگان
چکیده
منابع مشابه
Inclusion body myopathy-like changes in a family with cerebellar atrophy, mental retardation and abnormal pupils.
derstood, dysphagia had worsened, cognitive function had deteriorated and the patient was no longer self-sufficient. On hospitalization in our department at age 28 years, neurological examination showed severe mental retardation (IQ 48), ataxic gait, diffuse hypotonia and mild muscle hypotrophy, unintelligible speech and hypernasal voice, dysphagia, slight upward gaze palsy, strabismus, anisoco...
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A patient is described with a novel syndrome characterised by progressive muscular weakness, contractures, pupillary muscle dysfunction, and skeletal deformity. The main myopathological feature was an abundance of tubular aggregates in both type I and type II muscle fibres. Myopathies in which tubular aggregates are the defining feature are rare and either present with progressive muscle weakne...
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The authors describe familial tubular aggregate myopathy associated with abnormal pupils. Four family members from two generations had myopathy and pupillary abnormalities. The myopathologic findings consisted of tubular aggregates in many fibers but predominantly type I fibers.
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Hereditary inclusion body myopathy type 2 (HIBM2) is a myopathy characterized by progressive muscle weakness with early adult onset. The disease is the result of a recessive mutation in the Glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase gene (GNE), which results in reduced enzyme function and sialic acid levels. A majority of individuals with HIBM2 are from Iranian-Jewish or ...
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Mental retardation (MR) is one of the most frequently found major genetic disorders around the world, affecting 1-3% of the people in the general population. The recent advancement in molecular biology and cytogenetic study has made possible the identification of new genes for a variety of genetic disorders including autosomal recessive MR. Recessive genetic disorders are common in Pakistan due...
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ژورنال
عنوان ژورنال: European Neurology
سال: 2006
ISSN: 0014-3022,1421-9913
DOI: 10.1159/000096182