Kennedy's disease

Kennedy's disease is an inherited motor neuron disease that affects males. It is one of a group of disorders called lower motor neuron disorders, which involve disruptions in the transmission of nerve cell signals in the brain to nerve cells in the brain stem and spinal cord.

Onset of the disease is usually between the ages of 20 and 40, although it has been diagnosed in males from their teens to their 70s.

Early symptoms include:

• Tremor of the outstretched hands
• Muscle cramps with exertion
• 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. Others develop non-insulin-dependent diabetes mellitus.

Kennedy's disease is an x-linked recessive disease, which means the female parent carries the defective gene on one X chromosomes. Female children of people with Kennedy's disease are also carriers and have a 50 percent chance of having a male child affected with the disease. Parents with concerns 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 use mobility devices such as wheelchairs during later stages. The life span of individuals with Kennedy's disease is usually normal.

How can I or my loved one help improve care for people with Kennedy's disease?

Consider participating in a clinical trial so clinicians and scientists can learn more about Kennedy's disease and related disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with Kennedy's disease at Clinicaltrials.gov.

Where can I find more information about Kennedy's disease?

The following organizations and resources help people with Kennedy's disease and their families, friends, and caregivers:

Kennedy's Disease Association
Phone: 855-532-7762

MedlinePlus

Muscular Dystrophy Association
Phone: 800-572-1717

National Organization for Rare Disorders (NORD)
Phone: 203-744-0100 or 800-999-6673; 844-259-7178 Spanish

Content source: https://www.ninds.nih.gov/health-information/disorders/kennedys-disease Accessed June 23, 2023.

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