Bulbospinal muscular atrophy (Q55316): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
A doença de Kennedy, também conhecida como atrofia muscular bulboespinhal (BSMA), é uma doença rara do neurônio motor ligada ao X, caracterizada por perda muscular proximal e bulbar. A neuropatia sensitiva também pode estar presente. Os sinais clínicos característicos incluem fasciculações faciais, ginecomastia e atrofia testicular. A doença é causada por expansões de repetiçõs CAG no primeiro éxon do gene AR (Xq12). | |||
| description / en | description / en | ||
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterised 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). | |||
Revision as of 02:57, 14 August 2026
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterised 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).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1604214898 |
||
| English | Bulbospinal muscular atrophy |
Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterised 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). |
