Reviewed May 2006
What is spinal and bulbar muscular atrophy?
Spinal and bulbar muscular atrophy is a disorder of specialized nerve cells that control muscle movement (motor neurons). This condition, which mainly affects males, is characterized by muscle weakness and wasting (atrophy) that usually begins in adulthood and worsens slowly over time. Muscle wasting in the arms and legs results in cramping, difficulty walking, and a tendency to fall. Certain muscles in the face and throat (bulbar muscles) are also affected, which causes progressive problems with swallowing and speech. Additionally, muscle twitches (fasciculations) are common. Some men with the disorder experience unusual breast development (gynecomastia) and may be unable to father a child (infertile).
How common is spinal and bulbar muscular atrophy?
This condition affects fewer than 1 in 50,000 males and is very rare in females.
What genes are related to spinal and bulbar muscular atrophy?
Mutations in the AR gene cause spinal and bulbar muscular atrophy.
This disorder is caused by a mutation in which a DNA segment, known as a CAG triplet repeat, is abnormally expanded within the androgen receptor (AR) gene. Normally, this DNA segment is repeated up to about 36 times. In people with spinal and bulbar muscular atrophy, the CAG segment is repeated at least 38 times, and may be two or three times its usual length. The abnormally expanded CAG triplet repeat changes the structure of the protein made by the AR gene, disrupting the normal function of motor neurons in the brain and spinal cord. These nerve cells gradually die, leading to the muscle weakness and wasting seen in this condition. People with a higher number of CAG repeats tend to develop signs and symptoms of spinal and bulbar muscular atrophy at an earlier age.
Read more about the AR gene.
How do people inherit spinal and bulbar muscular atrophy?
This condition is inherited in an X-linked recessive 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), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Some females with one altered copy of the AR gene have mild signs and symptoms related to the condition, including muscle cramps and occasional tremors.
Where can I find information about treatment for spinal and bulbar muscular atrophy?
These resources address the management of spinal and bulbar muscular atrophy and may include treatment providers.
You might also find information on treatment of spinal and bulbar muscular atrophy in
Educational resources and Patient support.
Where can I find additional information about spinal and bulbar muscular atrophy?
You may find the following resources about spinal and bulbar muscular atrophy helpful. These materials are written for the general public.
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- Additional NIH Resources - National Institutes of Health
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You may also be interested in these resources, which are designed for healthcare professionals and researchers.
What other names do people use for spinal and bulbar muscular atrophy?
- Bulbospinal muscular atrophy, X-linked
- KD
- Kennedy disease
- Kennedy's disease
- Kennedy spinal and bulbar muscular atrophy
- SBMA
- X-linked spinal and bulbar muscular atrophy
What if I still have specific questions about spinal and bulbar muscular atrophy?
Where can I find general information about genetic conditions?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding spinal and bulbar muscular atrophy?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
healthcare professional.
See How can I find a genetics professional in my area? in the Handbook.