Kennedy disease

Disease Overview

Kennedy disease is a gradually progressive, neuromuscular disorder characterized by wasting of the proximal muscles (those closer to the trunk) and bulbar muscles (those of the face and throat).The condition mainly affects males, with onset between the ages of 30 and 60.[5518] Early symptoms may include tremor, muscle cramps, and muscle twitching. This is followed by progressive muscle weakness and wasting, which may manifest in a variety of ways.[5518][9670] Affected people may also have gynecomastia, testicular atrophy (reduction in size or function of the testes), and reduced fertility as a result of mild androgen insensitivity.[9670] Kennedy disease is caused by a mutation in the androgen receptor (AR) gene and is inherited in an X-linked recessive manner. Treatment may include physiotherapy and rehabilitation; medications to alleviate tremor and muscle cramps; and hormone therapy or surgical treatment for gynecomastia.[5518][9670]

Synonyms

• Spinal and bulbar muscular atrophy
• X-linked spinal and bulbar muscular atrophy
• Bulbospinal muscular atrophy
• X-linked bulbospinal amyotrophy
• Spinobulbar muscular atrophy
• SBMA