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Spinal Bulbar Muscular Atrophy (SBMA) (Also known as Bulbospinal Muscular Atrophy and Kennedy's Disease
)
Definition - a genetic disease in which loss of
nerve cells in the spinal cord and brain stem called motor neurons affects the
part of the nervous system that controls voluntary muscle movement.
Cause - A genetic mutation that affects an X-chromosome gene for the
androgen receptor protein, apparently making it toxic to nerve cells.
Onset - Adulthood - 30 to 50 years.
Symptoms - Weakness of the muscles of the mouth, throat, face and limbs.
Symptoms related to abnormal processing of androgens (male hormones), such as
breast enlargement and reduced fertility, may also occur.
Progression - Very slow (over decades)
Inheritance - X-linked recessive (Usually affects only men; - female
carriers may have a mild form.)
