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)

A 71-year-old man developed clinical signs of Kennedy disease including dysarthria, dysphagia, palatal and oral mandibular fasciculations, lower-extremity weakness, gynecomastia, and testicular atrophy. Electrophysiologic studies showed sensory axonal polyneuropathy and chronic neurogenic changes of large-motor unit action potentials with decreased recruitment. Genetic analysis showed a normal 17-CAG repeat sequence. Laboratory studies showed an increased estrogen level of 180 to 220 pg/mL, probably related to his alcoholic fatty liver disease. Splenomegaly was present by ultrasound. The increased level of estrogen adversely affected estrogen-sensitive cells in breast, testicular, neuronal, and muscle cells, leading to the clinical phenotype.
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PMID:Hyperestrogenemia simulating kennedy disease. 1809 Jun 81