Learn About Spinal and Bulbar Muscular Atrophy

What is the definition of Spinal and Bulbar Muscular Atrophy?

Spinal and bulbar muscular atrophy, also known as Kennedy disease, is a disorder of specialized nerve cells that control muscle movement (motor neurons). These nerve cells originate in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem).

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What are the causes of Spinal and Bulbar Muscular Atrophy?

Spinal and bulbar muscular atrophy results from a particular type of mutation in the AR gene. This gene provides instructions for making a protein called an androgen receptor. This receptor attaches (binds) to a class of hormones called androgens, which are involved in male sexual development. Androgens and androgen receptors also have other important functions in both males and females, such as regulating hair growth and sex drive.

How prevalent is Spinal and Bulbar Muscular Atrophy?

This condition affects fewer than 1 in 150,000 males and is very rare in females.

Is Spinal and Bulbar Muscular Atrophy an inherited disorder?

This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In most cases, males experience more severe symptoms of the disorder than females (who have two X chromosomes). Females with a mutation in one copy of the AR gene in each cell are typically unaffected. A few females with mutations in both copies of the gene have had mild features related to the condition, including muscle cramps and occasional tremors. Researchers believe that the milder signs and symptoms in females may be related to lower androgen levels.

Who are the top Spinal and Bulbar Muscular Atrophy Local Doctors?
Elite
Highly rated in
7
conditions
Neurology

11824 New Country Ln 
Columbia, MD 21044

Christopher Grunseich is a Neurologist in Columbia, Maryland. Dr. Grunseich is rated as an Elite doctor by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. He is also highly rated in 7 other conditions, according to our data. His top areas of expertise are Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy SMA, Primary Lateral Sclerosis, and Aicardi-Goutieres Syndrome. He is licensed to treat patients in District of Columbia.

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Highly rated in
42
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Nagoya University Graduate School Of Medicine

Nagoya, JP 46685

Masahisa Katsuno is in Nagoya, Japan. Katsuno is rated as an Elite expert by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. They are also highly rated in 42 other conditions, according to our data. Their top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis ALS or Lou Gehrig's Disease, Spinal Muscular Atrophy SMA, and Spinal and Bulbar Muscular Atrophy.

 
 
 
 
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Elite
Highly rated in
3
conditions

Nagoya University Graduate School Of Medicine

Nagoya, JP 

Atsushi Hashizume is in Nagoya, Japan. Hashizume is rated as an Elite expert by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. He is also highly rated in 3 other conditions, according to our data. His top areas of expertise are Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy SMA, Primary Lateral Sclerosis, and Spinal Muscular Atrophy Type 1.

What are the latest Spinal and Bulbar Muscular Atrophy Clinical Trials?
Coordination of Rare Diseases at Sanford
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A Phase IIIb, Open-label, Single-arm, Single-dose, Multicenter Study to Evaluate the Safety, Tolerability and Efficacy of Gene Replacement Therapy With Intravenous OAV101 (AVXS-101) in Pediatric Patients With Spinal Muscular Atrophy (SMA)
Who are the sources who wrote this article ?

Published Date:updated Last, June

Published By: National Institutes of Health

What are the Latest Advances for Spinal and Bulbar Muscular Atrophy?
Interventions for promoting physical activity in people with neuromuscular disease.
Efficacy and safety of leuprorelin acetate for subjects with spinal and bulbar muscular atrophy: pooled analyses of two randomized-controlled trials.
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Safety, tolerability, and preliminary efficacy of an IGF-1 mimetic in patients with spinal and bulbar muscular atrophy: a randomised, placebo-controlled trial.