Sunday, 4 December 2011

Kennedy's syndrome

- X-linked recessive spinobulbar muscular atrophy
- associated with mutation of androgen receptor gene
- trinucleotide repeat disorder
- perioral fasciculation is a feature
- also presents with cramps, facial weakness, proximal limb weakness, tremor, absent reflexes, fasciculations or dysarthria
- abnormalities are found in androgen receptors leading to gynaecomastia and testicular atrophy
- CK is often elevated

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1 comment:

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