MCID: DYS140
MIFTS: 25

Dyskinesia, Familial, with Facial Myokymia

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dyskinesia, Familial, with Facial Myokymia

MalaCards integrated aliases for Dyskinesia, Familial, with Facial Myokymia:

Name: Dyskinesia, Familial, with Facial Myokymia 57 75 29 13 6 40 73
Fdfm 57 59 75
Familial Dyskinesia and Facial Myokymia 59
Myokymia 44

Characteristics:

Orphanet epidemiological data:

59
familial dyskinesia and facial myokymia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood or early adolescence
movements worsened by anxiety
some patients may show neurologic improvement late in life


HPO:

32
dyskinesia, familial, with facial myokymia:
Onset and clinical course juvenile onset
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606703
Orphanet 59 ORPHA324588
UMLS via Orphanet 74 C1847627
ICD10 via Orphanet 34 G51.4
MedGen 42 C1847627
UMLS 73 C1847627

Summaries for Dyskinesia, Familial, with Facial Myokymia

UniProtKB/Swiss-Prot : 75 Dyskinesia, familial, with facial myokymia: A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages.

MalaCards based summary : Dyskinesia, Familial, with Facial Myokymia, also known as fdfm, is related to isolated facial myokymia and myokymia with neonatal epilepsy, and has symptoms including dystonia and myokymia. An important gene associated with Dyskinesia, Familial, with Facial Myokymia is ADCY5 (Adenylate Cyclase 5). Affiliated tissues include heart, and related phenotypes are facial myokymia and anxiety

OMIM : 57 Familial dyskinesia with facial myokymia is an autosomal dominant movement disorder characterized by childhood onset of involuntary choreiform or dystonic movements that involve the limb and facial muscles. The severity is variable, but can result in difficulty walking and talking (summary by Chen et al., 2014). (606703)

Related Diseases for Dyskinesia, Familial, with Facial Myokymia

Diseases related to Dyskinesia, Familial, with Facial Myokymia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 isolated facial myokymia 12.1
2 myokymia with neonatal epilepsy 12.0
3 seizures, benign familial neonatal, 1 11.9
4 episodic ataxia, type 1 11.8
5 adcy5-related dyskinesia 11.4
6 episodic ataxia 11.4
7 neuromyotonia and axonal neuropathy, autosomal recessive 11.2

Graphical network of the top 20 diseases related to Dyskinesia, Familial, with Facial Myokymia:



Diseases related to Dyskinesia, Familial, with Facial Myokymia

Symptoms & Phenotypes for Dyskinesia, Familial, with Facial Myokymia

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
limb hypertonia
delayed motor development (in some patients)
choreiform movements
dystonic movements
more
Cardiovascular Heart:
dilated cardiomyopathy (in some patients)
congestive heart failure (in some patients)

Head And Neck Face:
facial myokymia
abnormal facial movements
periorbital dyskinesia
perioral dyskinesia

Muscle Soft Tissue:
axial hypotonia (in some patients)


Clinical features from OMIM:

606703

Human phenotypes related to Dyskinesia, Familial, with Facial Myokymia:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 facial myokymia 32 HP:0000317
2 anxiety 32 HP:0000739
3 dysarthria 32 HP:0001260
4 motor delay 32 occasional (7.5%) HP:0001270
5 dystonia 32 HP:0001332
6 hyperreflexia 32 occasional (7.5%) HP:0001347
7 congestive heart failure 32 occasional (7.5%) HP:0001635
8 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
9 chorea 32 HP:0002072
10 resting tremor 32 occasional (7.5%) HP:0002322
11 limb hypertonia 32 HP:0002509
12 muscular hypotonia of the trunk 32 occasional (7.5%) HP:0008936
13 dyskinesia 32 HP:0100660

UMLS symptoms related to Dyskinesia, Familial, with Facial Myokymia:


dystonia, myokymia

Drugs & Therapeutics for Dyskinesia, Familial, with Facial Myokymia

Search Clinical Trials , NIH Clinical Center for Dyskinesia, Familial, with Facial Myokymia

Cochrane evidence based reviews: myokymia

Genetic Tests for Dyskinesia, Familial, with Facial Myokymia

Genetic tests related to Dyskinesia, Familial, with Facial Myokymia:

# Genetic test Affiliating Genes
1 Dyskinesia, Familial, with Facial Myokymia 29 ADCY5

Anatomical Context for Dyskinesia, Familial, with Facial Myokymia

MalaCards organs/tissues related to Dyskinesia, Familial, with Facial Myokymia:

41
Heart

Publications for Dyskinesia, Familial, with Facial Myokymia

Articles related to Dyskinesia, Familial, with Facial Myokymia:

# Title Authors Year
1
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. ( 22782511 )
2012
2
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. ( 18980218 )
2009
3
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. ( 11310626 )
2001

Variations for Dyskinesia, Familial, with Facial Myokymia

UniProtKB/Swiss-Prot genetic disease variations for Dyskinesia, Familial, with Facial Myokymia:

75
# Symbol AA change Variation ID SNP ID
1 ADCY5 p.Ala726Thr VAR_068821 rs796065306
2 ADCY5 p.Arg418Trp VAR_073778 rs864309483

ClinVar genetic disease variations for Dyskinesia, Familial, with Facial Myokymia:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ADCY5 NM_183357.2(ADCY5): c.3086T> A (p.Met1029Lys) single nucleotide variant Pathogenic rs864309484 GRCh37 Chromosome 3, 123010201: 123010201
2 ADCY5 NM_183357.2(ADCY5): c.3086T> A (p.Met1029Lys) single nucleotide variant Pathogenic rs864309484 GRCh38 Chromosome 3, 123291354: 123291354
3 ADCY5 NM_183357.2(ADCY5): c.2176G> A (p.Ala726Thr) single nucleotide variant Pathogenic rs796065306 GRCh37 Chromosome 3, 123038601: 123038601
4 ADCY5 NM_183357.2(ADCY5): c.2176G> A (p.Ala726Thr) single nucleotide variant Pathogenic rs796065306 GRCh38 Chromosome 3, 123319754: 123319754
5 ADCY5 NM_183357.2(ADCY5): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic rs864309483 GRCh37 Chromosome 3, 123071311: 123071311
6 ADCY5 NM_183357.2(ADCY5): c.1252C> T (p.Arg418Trp) single nucleotide variant Pathogenic rs864309483 GRCh38 Chromosome 3, 123352464: 123352464
7 ADCY5 NM_183357.2(ADCY5): c.2088+1G> T single nucleotide variant Pathogenic rs797045002 GRCh38 Chromosome 3, 123325321: 123325321
8 ADCY5 NM_183357.2(ADCY5): c.2088+1G> T single nucleotide variant Pathogenic rs797045002 GRCh37 Chromosome 3, 123044168: 123044168
9 ADCY5 NM_183357.2(ADCY5): c.2088+1G> A single nucleotide variant Pathogenic rs797045002 GRCh38 Chromosome 3, 123325321: 123325321
10 ADCY5 NM_183357.2(ADCY5): c.2088+1G> A single nucleotide variant Pathogenic rs797045002 GRCh37 Chromosome 3, 123044168: 123044168
11 ADCY5 NM_183357.2(ADCY5): c.1253G> A (p.Arg418Gln) single nucleotide variant Pathogenic rs864309515 GRCh38 Chromosome 3, 123352463: 123352463
12 ADCY5 NM_183357.2(ADCY5): c.1253G> A (p.Arg418Gln) single nucleotide variant Pathogenic rs864309515 GRCh37 Chromosome 3, 123071310: 123071310

Expression for Dyskinesia, Familial, with Facial Myokymia

Search GEO for disease gene expression data for Dyskinesia, Familial, with Facial Myokymia.

Pathways for Dyskinesia, Familial, with Facial Myokymia

GO Terms for Dyskinesia, Familial, with Facial Myokymia

Sources for Dyskinesia, Familial, with Facial Myokymia

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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73 UMLS
74 UMLS via Orphanet
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