Action myoclonus - renal failure syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MYOCLONUS-NEPHROPATHY SYNDROME
ACTION MYOCLONUS-RENAL FAILURE SYNDROME
EPM4
AMRF
Number of Symptoms 26
OrphanetNr: 163696
OMIM Id: 254900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 17 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease
Primary glomerular disease
 -Rare genetic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000093) Proteinuria 169 / 7739
3
 (HPO:0000112) Nephropathy 92 / 7739
4
 (HPO:0000100) Nephrotic syndrome 83 / 7739
5
 (HPO:0000097) Focal segmental glomerulosclerosis 37 / 7739
6
 (HPO:0002345) Action tremor 11 / 7739
7
 (HPO:0002197) Generalized seizures 30 / 7739
8
 (HPO:0002066) Gait ataxia 327 / 7739
9
 (HPO:0002174) Postural tremor 22 / 7739
10
 (HPO:0001336) Myoclonus 115 / 7739
11
 (HPO:0002080) Intention tremor 44 / 7739
12
 (HPO:0002015) Dysphagia 301 / 7739
13
 (HPO:0001260) Dysarthria 329 / 7739
14
 (HPO:0001873) Thrombocytopenia 224 / 7739
15
 (OMIM) Horizontal saccades 1 / 7739
16
 (OMIM) Collapsing glomerulopathy 1 / 7739
17
 (OMIM) Complement component deposition 1 / 7739
18
 (HPO:0003678) Rapidly progressive 33 / 7739
19
 (OMIM) Granular material in cortical tubules 1 / 7739
20
 (OMIM) Action myoclonus 3 / 7739
21
 (OMIM) Resting myoclonus 1 / 7739
22
 (OMIM) Extraneuronal accumulation of autofluorescent pigmented material in various brain regions 1 / 7739
23
 (OMIM) Vacuolization in distal and collecting tubules 1 / 7739
24
 (OMIM) No cognitive decline 1 / 7739
25
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
26
 (HPO:0001272) Cerebellar atrophy 197 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The action myoclonus-renal failure syndrome is an autosomal recessive progressive myoclonic epilepsy associated with renal failure. Cognitive function is preserved (Badhwar et al., 2004). Some patients do not develop renal failure (Dibbens et al., 2009).

For ...
Clinical Description OMIM Andermann et al. (1981) observed 3 patients in 4 French Canadian sibships who developed tremor of the fingers and hands and proteinuria at 17 to 18 years of age. Severe progressive action myoclonus, dysarthria, ataxia, infrequent generalized seizures, ...
Molecular genetics OMIM Using microarray expression analysis, Berkovic et al. (2008) identified the SCARB2 gene (602257) as a likely site of mutations causing AMRF within the critical region. Mutations in SCARB2 were found in all 3 families used for mapping and ...