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Spinal bulbar muscular atrophy
SBMA, also referred to as Kennedy’s Disease, is a slowly progressive form of MND that involves the degeneration of the LMNs
SBMA is caused by a mutation in the androgen receptor gene (AR) which is located on the X chromosome. Whilst normal individuals carry 9-36 CAG repeats in the AR exon 1, SBMA patients carry between 38 and 62 repeats.
SBMA is characterized by the loss of LMNs and a myopathy which lead to a generally slowly progressive weakness.
We run the UK National Registry for Kennedy’s Disease and there is a dedicated clinic for Kennedy’s Disease at the National Hospital for Neurology and Neurosurgery.