Spinal and Bulbar Muscular Atrophy Overview
Learn About 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).
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.
This condition affects fewer than 1 in 150,000 males and is very rare in females.
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.
Masahisa Katsuno practices in Nagoya, Japan. Katsuno and is rated as an Elite expert by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. Their top areas of expertise are Spinal and Bulbar Muscular Atrophy, Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Thalamotomy, and Deep Brain Stimulation.
Gen Sobue practices in Nagakute, Japan. Sobue and is rated as an Elite expert by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. Their top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal and Bulbar Muscular Atrophy, Bone Marrow Aspiration, and Deep Brain Stimulation.
Atsushi Hashizume practices in Nagoya, Japan. Mr. Hashizume and is rated as an Elite expert by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. His top areas of expertise are Spinal and Bulbar Muscular Atrophy, Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Muscle Atrophy, and Orchiectomy.
Background: SBMA is an inherited chronic disease. It affects males in mid to late adulthood. It causes slowly progressive weakness of muscles and hand tremors. Researchers want to learn more about the effects of SBMA.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: June 01, 2020
Published By: National Institutes of Health