Action myoclonus–renal failure syndrome

Also known as: AMRF; SCARB2-related progressive myoclonus epilepsy

Progressive myoclonus epilepsy with proteinuria and renal failure.

Medical specialty: Nephrology
Subspecialty: Nephrology / Hereditary kidney disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, teen onset
Gene(s) involved: SCARB2

Etiology & mechanism

SCARB2 (LIMP-2) loss affects lysosomes.

Gene(s) involved (1)

SCARB2

Symptoms & signs (7)

action myoclonusataxiadementiaproteinuriarenal failureseizurestremor

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