Kennedy's Disease

Kennedy's disease is a form of male-specific, hereditary lower motor neuron disease.

Last Updated: February 25, 2024

The term "lower motor neuron disorder" describes a condition that involves disruptions in the transmission of nerve cell signals from the spinal cord to the specific organs of the body, for example, the muscles).

When these nerve cells fire, which makes the muscles to contract. In KD, defective nerve cells die, leaving muscles unable to contract. 

Most men get the disease between 20 and 40, but it has been found in men as young as ten and as old as 70.

Fasciculations (fleeting muscle twitches visible under the skin), muscle spasms, and trembling of the outstretched hands are early indications. People eventually acquire limb weakness, typically in the pelvis or shoulder regions. 

Dysphagia (swallowing difficulty), dysarthria (slurred speech), and recurrent aspiration pneumonia are common complications. These symptoms might arise later in the progression of the disease due to face and tongue muscle weakness. 

Some men will have gynecomastia (an abnormally large breast tissue expansion) and a low sperm count or infertility. 

Others also progress to type 2 diabetes mellitus.

Because Kennedy's disease is a kind of motor neuron disease, it may present clinically similar to amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease). The absence of involvement of higher motor neurons (meaning involvement of the brain), which are responsible for heightened reflexes and spasticity in ALS patients, is one of the most important characteristics that differentiate Kennedy's disease from ALS. Clinical signs and the results of electrodiagnostic testing (EMG/NCS) to check the signal transduction from the spinal cord to a specific muscle or muscle groups can inform the possibility of Kennedy's disease. Nevertheless, a straightforward blood test is required to confirm the diagnosis where the DNA is analyzed and find the faulty gene. 

Treatment

Unfortunately, no therapy is considered effective for Krabbe's disease. Some people with Krabbe disease take medications their doctor recommended reducing the symptoms. 

Some people have found that combining a smart (light) fitness routine with stretching is beneficial.

Daughters of patients diagnosed with Kennedy disease are also carriers of the disease and have a risk of giving birth to a son with the disease. Genetic counseling may be necessary for these types of parents and discuss how they could mitigate their children's chances of having Krabbe's disease.

 

References

National Institute of Neurological Disorders and Stroke (2022). Kennedy's Disease. Retrieved December 19, 2022, from https://www.ninds.nih.gov/health-information/disorders/kennedys-disease

 

Kennedy's Disease Association (2022). What is Kennedy's Disease. Retrieved December 19, 2022, from https://www.kennedysdisease.org/what-is-kd/what-is-kennedys-disease

 

American Association of Neuromuscular & Electrodiagnostic Medicine (2022). What is Kennedy's Disease. Retrieved December 19, 2022, from https://www.aanem.org/Patients/Muscle-and-Nerve-Disorders/Kennedys-Disease

Last Updated: February 25, 2024