Kennedy's

From WikiMD's Wellness Encyclopedia

Kennedy's disease (also known as spinal and bulbar muscular atrophy or SBMA) is a rare, X-linked recessive neurodegenerative disease. It is characterized by the progressive weakening and wasting of the muscles, particularly those in the arms and legs. The disease is caused by a mutation in the androgen receptor gene.

Symptoms[edit | edit source]

The symptoms of Kennedy's disease include muscle weakness, tremors, and difficulty swallowing. These symptoms typically begin in adulthood and progress slowly over time. Other symptoms may include gynecomastia, reduced fertility, and sensory neuropathy.

Causes[edit | edit source]

Kennedy's disease is caused by a mutation in the androgen receptor gene. This gene is located on the X chromosome, which means that the disease is X-linked and primarily affects males. Females can be carriers of the mutation, but they typically do not show symptoms of the disease.

Diagnosis[edit | edit source]

The diagnosis of Kennedy's disease is typically made based on the presence of characteristic symptoms, a family history of the disease, and genetic testing. The genetic test looks for the specific mutation in the androgen receptor gene that causes Kennedy's disease.

Treatment[edit | edit source]

There is currently no cure for Kennedy's disease. Treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, and speech therapy. Medications may also be used to manage symptoms such as muscle spasms and tremors.

See also[edit | edit source]

References[edit | edit source]


Kennedy's Resources
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Contributors: Prab R. Tumpati, MD