Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 42 year old man presented with a slowly progressive gait disturbance, generalised weakness, dysarthria, clumsiness and tremor of his hands, and involuntary jerks. Hexosaminidase A activity in plasma, leucocytes and fibroblasts was considerably reduced, establishing the diagnosis of GM2 gangliosidosis. Clinical examination showed two previously unreported features, a clinically evident sensory neuropathy and internuclear ophthalmoplegia.
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PMID:An adult onset hexosaminidase A deficiency syndrome with sensory neuropathy and internuclear ophthalmoplegia. 183 93

An Ashkenazi Jewish brother and sister developed progressive ataxia and proximal neurogenic muscle weakness, associated with supranuclear ophthalmoplegia, in the fourth decade of life. Hexosaminidase A activity, assayed using both synthetic and natural substrates, was severely reduced in the patients' plasma, leukocytes, and skin fibroblasts. Enzyme activity in their parents was in a similar range to that seen in heterozygotes for Tay-Sachs disease. The increasing evidence for marked clinical and molecular heterogeneity in the GM2 gangliosidoses warrants their consideration in the diagnosis of multisystem degenerative neurological disorders, even if onset of symptoms is in adult life.
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PMID:Adult onset supranuclear ophthalmoplegia, cerebellar ataxia, and neurogenic proximal muscle weakness in a brother and sister: another hexosaminidase A deficiency syndrome. 295 62