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Kennedy Disease

Abstract

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NORD is very grateful to Joseph Kim, NORD Editorial Intern from the University of Notre Dame, and Albert La Spada, MD, PhD, FACMG, Professor of Pediatrics and Cellular & Molecular Medicine; Vice Chair and Division Head of Genetics, Department of Pediatrics & Rady Children's Hospital-San Diego; Associate Director, Institute for Genomic Medicine, University of California, San Diego, for assistance in the preparation of this report.

Synonyms of Kennedy Disease

  • KD
  • Kennedy's syndrome
  • SBMA
  • spinal and bulbar muscular atrophy
  • spinal bulbar muscular atrophy
  • X-linked spinal and bulbar muscular atrophy
  • X-linked spinal bulbar muscular atrophy

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Summary
Kennedy disease is a rare, X-linked slowly progressive neuro-muscular disorder. Kennedy disease is typically an adult-onset disease, where symptoms occur mainly between the ages of 20 and 50. The disease is characterized by symptoms such as muscle weakness and cramps in the arms, legs, and facial area, enlarged breasts, and difficulty with speaking and swallowing (dysphagia). Kennedy disease affects fewer than 1 in 150,000 males and does not typically occur in females, who are protected by their low levels of circulating testosterone, accounting for the sex-limited inheritance pattern in this disorder. Treatment is symptomatic and supportive and life expectancy is normal, though a small percentage of patients (~ 10%) succumb to the disease in their 60’s or 70’s.

Introduction
Kennedy disease is named after William R. Kennedy, MD, who described this condition in an abstract in 1966 and a full report in 1968.

Kennedy Disease Resources

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