Open AccessKlinefelter′s syndrome associated with progressive muscular atrophy simulating Kennedy′s disease
Author(s) -
Pedro Enrique Jiménez Caballero
Publication year - 2012
Publication title -
annals of indian academy of neurology
Language(s) - English
Resource type - Journals
eISSN - 1998-3549
pISSN - 0972-2327
DOI - 10.4103/0972-2327.99730
Subject(s) - gynecomastia , spinal and bulbar muscular atrophy , medicine , atrophy , spinal muscular atrophy , testicular atrophy , klinefelter syndrome , neuromuscular disease , muscular dystrophy , disease , azoospermia , amyotrophy , pathology , infertility , genetics , androgen receptor , biology , pregnancy , prostate cancer , cancer
Kennedy's disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter's syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter's syndrome. Genetic study of Kennedy's disease was normal. Our patient differs from those with Kennedy's disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.