Spinal bulbar muscular atrophy


Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:


Synonyms

  • Kennedy's disease


Definition

Spinal bulbar muscular atrophy is a lower motor neuron disease caused by a CAG expansion within exon 1 of the androgen receptor gene. These gene is located on the X-chromosome so the inheritance of the disorder is X-linked.




Clinical features


Spinal bulbar muscular atrophy may cause the following: