Familial cortical myoclonus

General Information (adopted from Orphanet):

Synonyms, Signs: FCM
Number of Symptoms 9
OrphanetNr: 319189
OMIM Id: 614937
ICD-10: G25.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Primary myoclonus
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001336) Myoclonus 115 / 7739
2
(HPO:0002527) Falls 10 / 7739
3
(OMIM) Frequent falls with preservation of consciousness 1 / 7739
4
(HPO:0003677) Slow progression 134 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Cerebellar ataxia, mild, late-onset 1 / 7739
7
(OMIM) Myoclonus, cortical, multifocal 1 / 7739
8
(HPO:0003581) Adult onset 117 / 7739
9
(OMIM) Facial myoclonus 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial cortical myoclonus is an autosomal dominant neurologic condition characterized by adult onset of cortical myoclonus manifest as involuntary jerks or movements affecting the face and limbs. Affected individuals can also experience falls without seizure activity or loss ...
Clinical Description OMIM Russell et al. (2012) reported a large 4-generation Canadian Mennonite family in which 11 individuals had adult-onset, slowly progressive cortical myoclonus variably affecting the face and upper and lower extremities. Onset of multifocal myoclonus occurred between the second ...
Molecular genetics OMIM In 11 affected members of a large Canadian Mennonite family with familial cortical myoclonus, Russell et al. (2012) identified a heterozygous mutation in the NOL3 gene (E21Q; 605235.0001). In vitro functional expression studies suggested that the mutation may ...