X-linked bulbospinal muscular atrophy (Kennedy's disease)

Epidemiology: rare Genetics: - associated with a trinucleotide repeat (CAG repeat) expansion in the coding region of the androgen receptor gene - number of Gln ranges from 40-52 longer expansions result in earlier onset & more severe clinical manifestations of the disease Clinical manifestations: - late-onset form of motor neuron degeneration accompanied by mental retardation & partial insensitivity to androgens

General

polyglutamine expansion disorder spinal muscular atrophy (SMA) X-linked disease

References

) NINDS Kennedy's Disease Information Page https://www.ninds.nih.gov/Disorders/All-Disorders/Kennedys-Disease-Information-Page