" /> Bulbospinal muscular atrophy - CISMeF





Preferred Label : Bulbospinal muscular atrophy;

ICD-11 definition : Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. Sensory neuropathy may also be present. Characteristic clinical signs include facial fasciculations, gynecomastia and testicular atrophy. The disease is caused by an expanded CAG repeat in the first exon of the AR gene (Xq12).;

ICD-11 synonym : Spinal and bulbar muscular atrophy; Kennedy Disease;

Détails


Position du mot-clé dans l'(les) arborescence(s) : arborescence

Vous pouvez consulter :

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting. Sensory neuropathy may also be present. Characteristic clinical signs include facial fasciculations, gynecomastia and testicular atrophy. The disease is caused by an expanded CAG repeat in the first exon of the AR gene (Xq12).

Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.