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

More general terms

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

Additional terms

• X-linked bulbospinal muscular atrophy genotyping

Patient information

Kennedy's disease patient information

Database

• OMIM: https://mirror.omim.org/entry/313200