Variation of phenotype in Charcot-Marie-Tooth disease.
A two year old from a family with typical Charcot-Marie-Tooth disease has extensive ocular and central abnormalities, severe generalized neuropathy, and amyotrophy. Many abnormalities previously described in association with Charcot-Marie-Tooth disease are combined in this patient, including chorioretinal degeneration, optic atrophy, facial weakness, oligophrenia, and generalized amyotrophy. Documentation of the diagnosis in the child's ancestors and the precedent for each of his abnormalities suggest that these features represent a virulent expression of the inherited defect.
D000690:Amyotrophic Lateral Sclerosis / Q000473:pathology; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008297:Male; D009133:Muscular Atrophy / Q000235:genetics*; D009896:Optic Atrophy / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012162:Retinal Degeneration / Q000473:pathology