Nephrology · Nephrology / Hereditary kidney disease
Action myoclonus–renal failure syndrome
also: AMRF; SCARB2-related progressive myoclonus epilepsy
Progressive myoclonus epilepsy with proteinuria and renal failure.
- Specialty
- Nephrology
- Subspecialty
- Nephrology / Hereditary kidney disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, teen onset
- Gene(s) involved
- SCARB2
- Alternative names & eponyms
- AMRF; SCARB2-related progressive myoclonus epilepsy
Etiology & mechanism
SCARB2 (LIMP-2) loss affects lysosomes.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Action myoclonus–renal failure syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Ramsay Hunt syndrome type 1
action myoclonus, ataxia, seizures
2 shared
Alcohol withdrawal syndrome
seizures, tremor
2 shared
Angelman syndrome
ataxia, seizures
2 shared
Cerebral folate deficiency syndrome
ataxia, seizures
2 shared
EAST syndrome
ataxia, seizures
2 shared
Hashimoto encephalopathy syndrome
seizures, tremor
2 shared
Hereditary spastic paraplegia type 21
ataxia, dementia
2 shared
Immune effector cell-associated neurotoxicity syndrome
seizures, tremor
2 shared
Marchiafava–Bignami disease
dementia, seizures
2 shared
NARP syndrome
ataxia, seizures
Shares genes with
None.
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