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Case Reports
. 2012 Jul;15(3):227-9.
doi: 10.4103/0972-2327.99730.

Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease

Pedro Enrique Jiménez Caballero  1
Affiliations
Case Reports

Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease

Pedro Enrique Jiménez Caballero. Ann Indian Acad Neurol. 2012 Jul.

Abstract

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.

Keywords: Electromyogram; Kennedy's disease; Klinefelter's syndrome; gynecomastia; muscle biopsy; progressive muscular atrophy.

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Conflict of interest statement

Conflict of Interest: Nil

Figures

Figure 1
Figure 1
EMG of biceps brachii shows delayed recruitment and fast firing of high amplitude as well as long duration motor unit potentials. This pattern suggests chronic partial denervation with evidence of reinervation
See this image and copyright information in PMC

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