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Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.

Original publication




Journal article


Neuromuscul Disord

Publication Date





978 - 981


Androgen receptor, Genetics, Kennedy’s disease, Motor neuron disease, Spinal bulbar muscular atrophy, Adult, Humans, Magnetic Resonance Imaging, Male, Muscle Weakness, Muscular Disorders, Atrophic, Nerve Fibers, Receptors, Androgen, Trinucleotide Repeats