Myoclonus - cerebellar ataxia - deafness

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 12
OrphanetNr: 2589
OMIM Id: 159800
ICD-10: G11.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
2
 (HPO:0000365) Hearing impairment 539 / 7739
3
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
4
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
5
 (HPO:0001336) Myoclonus 115 / 7739
6
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
7
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
10
 (HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
11
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
12
 (HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM May and White (1968) described a new syndrome of familial myoclonus, cerebellar ataxia and deafness and concluded that it is autosomal dominant. Evidence is meager; however, a mother and son had the full syndrome. Hearing loss was noted ...