Kennedy Disease

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Kennedy Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • X-linked Spinal and Bulbar Muscular Atrophy
  • KD
  • SBMA
  • Spinal and Bulbar Muscular Atrophy

Disorder Subdivisions

  • None

General Discussion

Kennedy Disease is a rare, slowly progressive muscular disorder that affects males only and is inherited as an X-linked genetic trait. Uncontrollable twitching (fasciculations) followed by weakness and wasting of the muscles becomes apparent sometime after the age of fifteen. The muscles of the face, lips, tongue, mouth, throat, vocal chords, trunk and limbs may be affected. Very large calves may also be found in some patients with this disorder. Kennedy disease is caused by a mutation in the androgen receptor (AR) gene. Androgen insensitivity leads to abnormal swelling of the breasts (gynecomastia), small testes and infertility.

Resources

National Ataxia Foundation
2600 Fernbrook Lane, Suite 119
Minneapolis, MN 55447-4752
USA
Tel: (763)553-0020
Fax: (763)553-0167
Email: naf@ataxia.org
Internet: http://www.ataxia.org

Families of Spinal Muscular Atrophy
925 Busse Road
Elk Grove Village, IL 60007
Tel: (847)367-7620
Fax: (847)367-7623
Tel: (800)886-1762
Email: sma@fsma.org
Internet: http://www.curesma.com

Muscular Dystrophy Association
3300 E. Sunrise Dr
Tucson, AZ 85718
USA
Tel: (520)529-2000
Fax: (520)529-5300
Tel: (800)572-1717
Email: mda@mdausa.org
Internet: http://www.mda.org/

National Institute of Neurological Disorders and Stroke (NINDS)
P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
TDD: (301)468-5981
Email: me20t@nih.gov
Internet: http://www.ninds.nih.gov/

Kennedy's Disease Association
P.O. Box 1105
Coarsegold, CA 93614
Tel: (559)658-5950
Fax: (559)658-5950
Email: info@kennedysdisease.org
Internet: http://www.kennedysdisease.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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