Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers with slowly progressive weakness and congenital nystagmus are presented. DNA analysis confirmed X-linked recessive bulbospinal muscular atrophy (XBSMA, Kennedy's disease) by demonstration of increased size of a CAG-triplet repeat on the androgen receptor gene on the X-chromosome. XBSMA is characterized by almost symmetrical muscular atrophy, weakness and fasciculations predominantly of bulbar, facial and proximal muscles of the extremities, with onset in the third to fifth decade. Tendon reflexes are depressed and pyramidal signs are absent. Sensory symptoms are clinically rare, but sensory nerve action potentials are frequently abnormal. Additional symptoms are important for differential diagnosis, and include postural tremor, gynecomastia, diabetes mellitus, testicular atrophy and impotence. Differentiation of this hereditary disorder from treatable conditions such as multifocal motor neuropathy or amyotrophic lateral sclerosis is essential. Though life expectancy is normal, patients become disabled in the course of the disease and need supportive care. Periodic testing for diabetes is recommended, and genetic counseling should be provided for patients and their relatives.
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PMID:[X-chromosomal bulbospinal muscular atrophy (Kennedy syndrome)]. 964 48

We report an autopsy case of multiple system atrophy (MSA) presenting with rapid progression of autonomic disturbance. He was admitted to our hospital because of gait disturbance and dysarthria. The patient was a Japanese man, who first noticed gait disturbance and dysarthria at age 58, followed by syncope 3 months later. He developed urinary incontinence and frequency of urination 8 months after the disease onset. His gait disturbance, dysarthria, syncope, and urinary symptoms progressed, and he was admitted to the department of neurology 1 year after the onset of the disease. He was clinically diagnosed as having MSA and was followed in the outpatient office. He deteriorated rapidly and was readmitted to the department of neurology 19 months after the onset of the disease. Physical examination showed orthostatic hypotension. Neurological examination revealed nystagmus, dysarthria of cerebellar type, increased deep tendon reflexes, bilateral positive Babinski signs, ataxic and spastic gait, mild right hypesthesia and hypalgesia, impotence, constipation, and urinary incontinence. Routine blood examination showed slight anemia, elevated BUN, GOT, and blood sugar. Electrocardiography revealed sinus tachycardia and chest rentogenogram showed cardiac enlargement. Brain MRI showed atrophy of cerebellum and pons, and lacunae in basal ganglia. Autonomic function tests revealed abnormal in head-up tilt test, and CVR-R in May and November 1995. However 123I-MIBG myocardial scintigraphy showed normal uptake of MIBG in May 1995 and decreased uptake in November 1995. He deteriorated rapidly and died in May 1996. Autopsy findings revealed not only prominent olivopontocerebellar and slight striatonigral lesions, but also autonomic lesions with massive appearance of glial cytoplasmic inclusions. He was pathologically verified as having MSA. In the present patient, autonomic nervous system, especially cardiac sympathetic nerve, deteriorated rapidly, which might result in short duration of the illness.
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PMID:[An autopsy case of multiple system atrophy presenting with rapid progression of autonomic disturbance]. 1022 92