[Neuroendocrine syndrome: pseudomyopathic spinal amyotrophy with gynecomastia related to the X chromosome. Kennedy's syndrome. 3 cases].
Three new cases of X chromosome-linked spinal muscular atrophy associated with gynaecomastia are reported. They were concordant with the description given in about 15 published reports: predominantly proximal muscle weakness and atrophy, fasciculations in the face and tongue, areflexia and slowly progressive course. In two of our patients nerve biopsy showed axonal lesions. All these patients had gynaecomastia. The relationship between the neurological and endocrine syndromes is discussed, but no firm conclusion can yet be drawn.
D000328:Adult; D008040:Genetic Linkage; D006177:Gynecomastia / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009133:Muscular Atrophy / Q000175:diagnosis / Q000503:physiopathology*; D009136:Muscular Dystrophies / Q000503:physiopathology; D013131:Spine; D013577:Syndrome; D014960:X Chromosome
Un syndrome neuro-endocrinien: l'amyotrophie spinale pseudo-myopathique avec gynécomastie liée au chromosome X. Syndrome de Kennedy. Trois observations.