Kennedy's disease

info · Genetic

A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.

Signs and symptoms

Hyporeflexia
Abnormality of the mouth
Dysphagia
Elevated circulating creatine kinase activity
Decreased fertility
Gynecomastia
Bulbar palsy
Dysarthria
Muscle spasm
Fasciculations

Also known as: Kennedy disease; SBMA; Spinobulbar Muscular Atrophy; X-Linked Bulbo-Spinal Atrophy; X-linked Spinal and Bulbar Muscular Atrophy