Spinal and Bulbar Muscular AtrophySymptoms, Doctors, Treatments, Advances & More
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.
Vanderbilt Medical Group- Teleneurology
. Dr. Lee is rated as a Distinguished provider by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. He is also highly rated in 32 other conditions, according to our data. His clinical expertise encompasses Myasthenia Gravis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Guillain-Barre Syndrome, and Gamma Knife Radiosurgery. Dr. Lee is board certified in American Board Of Psychiatry & Neurology.
Swedish Neurology - Cherry Hill
"Dr. Elliott serves as Chief of Neurology for the Swedish Neuroscience Institute; Medical Director, Neuromuscular Medicine and Medical Director, ALS Clinic. He is also board-certified in Electrodiagnostic Medicine. Dr. Elliott was selected by both Seattle Magazine and Seattle Metropolitan Magazine as a Top Doctor. ""It is a privilege to practice neurology and I am honored by those who entrust their care with me. I believe that listening is the foundation upon which excellent care is built.""". Dr. Elliott is rated as a Distinguished provider by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. He is also highly rated in 6 other conditions, according to our data. His clinical expertise encompasses Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Spinal Muscular Atrophy (SMA), Spinal and Bulbar Muscular Atrophy, and Spinal Muscular Atrophy Type 3. Dr. Elliott is board certified in American Board Of Psychiatry And Neurology and American Board Of Electrodiagnostic Medicine. Dr. Elliott is currently accepting new patients.
Reading Hospital
. Dr. Khoshnoodi is rated as an Advanced provider by MediFind in the treatment of Spinal and Bulbar Muscular Atrophy. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Peripheral Neuropathy, Miller-Fisher Syndrome, Guillain-Barre Syndrome, and Chronic Polyradiculoneuritis. Dr. Khoshnoodi is board certified in American Board Of Psychiatry And Neurology.
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: This is a data repository for multi-site multi-protocol clinic-based Natural History Study of ALS and Other Motor Neuron Disorders (MND). All people living with ALS or other MNDs who attend clinics at the Study hospitals (sites) are offered to participate in the Study. The Sites collect so-called Baseline information including demographics, disease history and diagnosis, family history, etc. At ea...
Published Date: June 01, 2020
Published By: National Institutes of Health