Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a Japanese family having an autosomal dominant neurodegenerative disease with chromosomal instability and radiosensitivity. Clinical manifestations of affected members included short stature, osteoporosis, severe dental caries, and various neurological abnormalities, such as mental retardation, depression, dysarthria, hyperreflexia, and ataxic gait. MRI demonstrated a markedly atrophic spinal cord and degeneration of the white matter. Cytogenetic examination showed spontaneous chromosome rearrangements at 14q11.2 and hypersensitivity to radiation and bleomycin. The degree of these cytogenetic abnormalities was significantly higher in the patients than in normal controls but lower than in patients with ataxia telangiectasia or Nijmegen breakage syndrome. Moreover, genetic anticipation was observed in this family: the age of disease onset became earlier, MRI abnormalities more extensive, and the chromosome hypersensitivity to radiation increased in successive generations. We speculate that a basic defect in this family is a mutation in the gene that is responsible for DNA double-strand breakage repair.
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PMID:Japanese family with an autosomal dominant chromosome instability syndrome: a new neurodegenerative disease? 1103 37

Myasthenia gravis is often difficult to diagnose and treat in older subjects due to complications, previous history and reciprocal interaction with drugs used to treat complications. An 84-year-old woman with slowly progressive 2-year dysphagia and dysarthria had reached critical condition with aspiration pneumonia. She was diagnosed with thymoma-free myasthenia gravis and her respirator removed after being administrated an anticholinesterase drug. Her dysphagia and dysarthria did not improve. Because of severe osteoporosis with two previous lumbar compression fractures and excessive thinness, she could not be given prednisolone or immunosuppressive drugs. Following cricopharyngeal myotomy and bilateral lateral palatopharyngeal wall narrowing, she could eat without misdeglutition and speak clearly.
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PMID:[Dysphagia and dysarthria surgery for advanced-age myasthenia gravis]. 2106 68