Spinal and Bulbar Muscular Atrophy (SBMA)
- Kennedy's disease
For details about specimen requirements, please refer to: Specimen Type & Requirements (PDF).
- Blood: 5-10 mL in EDTA, 0.5 mL in EDTA (neonate);
- DNA-minimum 10 ug in 100 uL low TE (pH8.0)
For details about specimen requirements, please refer to: Specimen Type and Requirements
Special Instructions for Genome Diagnostics Samples
If sample shipment >48 hours, ship on ice.
Spinal and bulbar muscular atrophy (SBMA or Kennedy disease) is an X-linked recessive motor neuron disease that occurs in one in 50,000 males. It is characterized by slowly progressive muscle weakness associated with mild insensitivity to the hormone androgen. Symptoms typically begin between the ages of 20 and 50 years with difficulty walking and a tendency to fall. Some patients have muscle cramps, while others complain of action tremors. Patients often show breast development, testicular atrophy and reduced fertility due to androgen insensitivity. The vast majority of patients with SBMA have a normal life expectancy and do not die from direct complications of their disease.
The principal mutation causing SBMA is an increase in the number of CAG repeats within the androgen receptor (AR) gene located on the X chromosome (specifically Xq11-q12). The normal gene contains a three base pair sequence that is repeated on each X chromosome (called a CAG trinucleotide repeat). Although variable in the general population, the number of repeats is usually inherited without change from generation to generation. In unaffected individuals, this region ranges in size from 9 to 34 repeats, whereas individuals affected with SBMA have 36-66 repeats (full mutation).
Males normally have one X chromosome in each cell. If that X chromosome carries the expansion mutation in the AR gene, the boy will have SBMA. Affected males who are fertile pass the expanded gene to each daughter. As a result, all daughters of affected fathers are carriers. Males do not pass an X chromosome to their sons. As a result, the sons of affected fathers do not receive the expanded gene, and are not affected. Females normally have two X chromosomes in each cell. If one X chromosome carries the mutation in the AR gene and the other one does not, the girl will be a carrier of SBMA. Carriers do not have and will not develop SBMA. Carrier females may, however, transmit the repeat expansion in the AR gene to their children. Each son of a carrier mother has a 50 per cent risk of being affected. Each daughter of a carrier mother has a 50 per cent risk of being a carrier.
See related information sheet: Spinal and bulbar muscular atrophy
Spinal and Bulbar Muscular Atrophy
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