Familial dyskinesia and facial myokymia

General Information (adopted from Orphanet):

Synonyms, Signs: FDFM
Number of Symptoms 17
OrphanetNr: 324588
OMIM Id: 606703
ICD-10: G24.8
G51.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Rare paroxysmal movement disorder
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000317) Facial myokymia 5 / 7739
2
(HPO:0002509) Limb hypertonia 13 / 7739
3
(HPO:0001270) Motor delay rare [HPO:skoehler] 322 / 7739
4
(HPO:0002322) Resting tremor rare [HPO:skoehler] 14 / 7739
5
(HPO:0001260) Dysarthria 329 / 7739
6
(HPO:0001332) Dystonia 197 / 7739
7
(HPO:0000739) Anxiety 67 / 7739
8
(HPO:0001347) Hyperreflexia rare [HPO:skoehler] 363 / 7739
9
(HPO:0100660) Dyskinesia 19 / 7739
10
(HPO:0002072) Chorea 53 / 7739
11
(HPO:0001644) Dilated cardiomyopathy rare [HPO:skoehler] 141 / 7739
12
(HPO:0001635) Congestive heart failure rare [HPO:skoehler] 232 / 7739
13
(HPO:0008936) Muscular hypotonia of the trunk rare [HPO:skoehler] 77 / 7739
14
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
15
(HPO:0003621) Juvenile onset 105 / 7739
16
(OMIM) Brief involuntary movements of upper extremities 1 / 7739
17
(OMIM) Myokymia, especially facial 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Fernandez et al. (2001) reported a 5-generation German family segregating an autosomal dominant syndrome of familial dyskinesia and facial myokymia (FDFM). The disorder was characterized by adventitious movements that sometimes appeared to be choreiform and were associated with ...
Molecular genetics OMIM In affected members of a large German family with autosomal dominant familial dyskinesia with facial myokymia, Chen et al. (2012) identified a heterozygous mutation in the ADCY5 gene (A726T; 600293.0001). Chen et al. (2012) noted that Adcy5-null mice ...