Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called spinal muscular atrophy (SMA). Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in men from their teens to their 70s. Early symptoms include tremor of the outstretched hands, muscle cramps with exertion, and fasciculations (fleeting muscle twitches visible under the skin). Eventually, individuals develop limb weakness which usually begins in the pelvic or shoulder regions. Weakness of the facial and tongue muscles may occur later in the course of the disease and often leads to dysphagia (difficulty in swallowing), dysarthria (slurring of speech), and recurrent aspiration pneumonia. Some individuals develop gynecomastia (excessive enlargement of male breasts) and low sperm count or infertility. Still others develop non-insulin-dependent diabetes mellitus. Kennedy's disease is an x-linked recessive disease, which means the patient's mother carries the defective gene on one of her X chromosomes. Daughters of patients with Kennedy's disease are also carriers and have a 1 in 2 chance of having a son affected with the disease. Parents with concerns about their children may wish to talk to a genetic counselor. Currently there is no known cure for Kennedy's disease. Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful. Kennedy's disease is slowly progressive. Individuals tend to remain ambulatory until late in the disease, although some may be wheelchair-bound during later stages. The life span of individuals with Kennedy's disease is usually normal. The NINDS supports a broad spectrum of research on motor neuron diseases, such as Kennedy's disease. Much of this research is aimed at increasing scientific understanding of these diseases and, ultimately, finding ways to prevent, treat, and cure them. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&term=bulbospinal+neuronopathy+AND+human[mh]+AND+english[la]+AND+(review[ptyp]+OR+review+literature[mh]+OR+practice+guideline[ptyp]+OR+guideline[ptyp]+OR+clinical+trials[mh]+OR+clinical+trial[ptyp]+OR+consumerj[sb])&db=PubMed&orig_db=PubMed&filters=on&pmfilter_EDatLimit=5+Years 1 http://clinicaltrials.gov/ct2/results?term= /disorders/kennedys/pubs_kennedys.htm /disorders/kennedys/xml_kennedys.xml xml_kennedys.xml Bulbospinal Muscular AtrophyX-Linked Spinal and Bulbar Muscular Atrophy V783 Kennedy's Disease Association

P.O. Box 1105

Coarsegold CA 93614-1105 info@kennedysdisease.org http://www.kennedysdisease.org 559-658-5950 Non-profit resource that offers support and information about spinal bulbar muscular atrophy or Kennedy's Disease. Works to increase awareness and to raise funds in support of research. Sponsors support groups. V160 Muscular Dystrophy Association

3300 East Sunrise Drive

Tucson AZ 85718-3208 mda@mdausa.org http://www.mda.org 520-529-2000 800-572-1717 520-529-5300 Voluntary health agency that fosters neuromuscular disease research and provides patient care funded almost entirely by individual private contributors. MDA addresses the muscular dystrophies, spinal muscular atrophy, ALS, Charcot-Marie-Tooth disease, myasthenia gravis, Friedreich's ataxia, metabolic diseases of muscle, and inflammatory diseases of muscle, for a total of more than 40 neuromuscular diseases. V91 National Organization for Rare Disorders (NORD)

55 Kenosia Avenue

Danbury CT 06810 orphan@rarediseases.org http://www.rarediseases.org 203-744-0100 Voice Mail 800-999-NORD (6673) 203-798-2291 Federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. Committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service.