FDFM
MCID: DYS140
MIFTS: 37

Dyskinesia, Familial, with Facial Myokymia (FDFM)

Categories: Genetic diseases, Mental diseases, Muscle 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 20 72 29 13 6 39 70
Fdfm 57 20 43 58 72
Familial Dyskinesia with Facial Myokymia 43 36
Familial Dyskinesia and Facial Myokymia 20 58
Adcy5-Related Dyskinesia 20 43
Myokymia 44

Characteristics:

Orphanet epidemiological data:

58
familial dyskinesia and facial myokymia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
dyskinesia, familial, with facial myokymia:
Inheritance autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM® 57 606703
KEGG 36 H02389
ICD10 via Orphanet 33 G51.4
UMLS via Orphanet 71 C1847627
Orphanet 58 ORPHA324588
MedGen 41 C1847627
UMLS 70 C1847627

Summaries for Dyskinesia, Familial, with Facial Myokymia

MedlinePlus Genetics : 43 ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.The abnormal movements associated with ADCY5-related dyskinesia usually begin between infancy and late adolescence. They can occur continually during waking hours, and frequently also disturb sleep. The involuntary movements often occur when changing position, such as from sitting to standing, or when deliberately making other movements.Severely affected infants may experience weak muscle tone (hypotonia) and delay in development of motor skills such as crawling and walking; later, these individuals may have difficulties with activities of daily living and may eventually require a wheelchair. In more mildly affected individuals, the condition has little impact on walking and other motor skills, although the abnormal movements can lead to clumsiness or difficulty with social acceptance in school or other situations.In some people with ADCY5-related dyskinesia, the disorder is generally stable throughout their lifetime. In others, it slowly gets worse (progresses) in both frequency and severity before stabilizing or even improving in middle age. Anxiety, fatigue, and other stress can temporarily increase the severity of the signs and symptoms of ADCY5-related dyskinesia, while some affected individuals may experience remission periods of days or weeks without abnormal movements. Life expectancy is not usually affected by ADCY5-related dyskinesia, and most people with this condition have normal intelligence.

MalaCards based summary : Dyskinesia, Familial, with Facial Myokymia, also known as fdfm, is related to neuromyotonia and axonal neuropathy, autosomal recessive 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), and among its related pathways/superpathways are cAMP signaling pathway and Glutamatergic synapse. The drugs Caffeine and Central Nervous System Stimulants have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are orofacial dyskinesia and facial myokymia

GARD : 20 ADCY5 -related dyskinesia is a movement disorder that is characterized by several different types of involuntary movements. Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. These abnormal movements are often continuous during waking hours and may persist during sleep, resulting in disrupted sleep cycles. The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants. As the name suggests, ADCY5 -related dyskinesia is caused by changes ( mutations ) in the ADCY5 gene. It is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy.

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) (Updated 05-Apr-2021)

KEGG : 36 Familial dyskinesia with facial myokymia (FDFM) is an autosomal dominant disorder characterized by paroxysmal chorea, dystonia, and facial myokymia. Missense mutations in ADCY5 were reported as the cause of FDFM. ADCY5 is one of membrane-bound adenylyl cyclases. ADCY5 expression is particularly high in striatum and myocardium.

UniProtKB/Swiss-Prot : 72 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.

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:

(show top 50) (show all 180)
# Related Disease Score Top Affiliating Genes
1 neuromyotonia and axonal neuropathy, autosomal recessive 11.5
2 myokymia with neonatal epilepsy 11.3
3 episodic ataxia, type 3 11.2
4 spastic tetraplegia and axial hypotonia, progressive 11.0
5 isolated facial myokymia 11.0
6 benign neonatal seizures 10.9
7 blepharospasm 10.9
8 spinocerebellar ataxia 14 10.9
9 episodic ataxia, type 8 10.9
10 morvan's fibrillary chorea 10.9
11 sgce myoclonus-dystonia 10.2
12 hypotonia 10.2
13 myotonia 10.2
14 tremor 10.2
15 neuropathy 10.2
16 guillain-barre syndrome 10.1
17 hemifacial spasm, familial 10.1
18 hemifacial spasm 10.1
19 myoclonus 10.1
20 alternating hemiplegia of childhood 10.1
21 hemiplegia 10.1
22 sleep disorder 10.1
23 hypertonia 10.1
24 multiple sclerosis 10.1
25 nasopharyngeal carcinoma 10.1
26 peripheral nervous system disease 10.1
27 glioma susceptibility 1 10.0
28 ptosis 10.0
29 polyneuropathy 10.0
30 facial paralysis 10.0
31 autosomal dominant cerebellar ataxia 10.0
32 malignant astrocytoma 10.0
33 demyelinating disease 10.0
34 plexopathy 10.0
35 pathologic nystagmus 10.0
36 glioma 10.0
37 glial tumor 10.0
38 seizures, benign familial neonatal, 1 10.0
39 chorea, childhood-onset, with psychomotor retardation 10.0
40 choreatic disease 10.0
41 migraine with or without aura 1 10.0
42 hereditary ataxia 10.0
43 motor neuron disease 10.0
44 polyradiculoneuropathy 10.0
45 amyotrophic lateral sclerosis 1 9.9
46 episodic ataxia, type 2 9.9
47 machado-joseph disease 9.9
48 carpal tunnel syndrome 9.9
49 strabismus 9.9
50 thymoma, familial 9.9

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

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 orofacial dyskinesia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002310
2 facial myokymia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000317
3 dysarthria 58 31 frequent (33%) Frequent (79-30%) HP:0001260
4 chorea 58 31 frequent (33%) Frequent (79-30%) HP:0002072
5 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
6 dystonia 58 31 frequent (33%) Frequent (79-30%) HP:0001332
7 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
8 muscular hypotonia of the trunk 58 31 occasional (7.5%) Frequent (79-30%) HP:0008936
9 limb hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0002509
10 resting tremor 58 31 occasional (7.5%) Frequent (79-30%) HP:0002322
11 hyperreflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001347
12 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
13 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
14 delayed gross motor development 58 31 occasional (7.5%) Occasional (29-5%) HP:0002194
15 motor delay 31 occasional (7.5%) HP:0001270
16 intellectual disability 58 Excluded (0%)
17 dyskinesia 31 HP:0100660
18 anxiety 31 HP:0000739

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
limb hypertonia
delayed motor development (in some patients)
hyperreflexia (in some patients)
choreiform 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 (Updated 05-Apr-2021)

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


dystonia; myokymia

Drugs & Therapeutics for Dyskinesia, Familial, with Facial Myokymia

Drugs for Dyskinesia, Familial, with Facial Myokymia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeine Approved 58-08-2 2519
2 Central Nervous System Stimulants
3 Neurotransmitter Agents
4 Phosphodiesterase Inhibitors

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inherited Myokymia: A Clinical and Genetic Study of a Family Unknown status NCT01250704
2 Study of Caffeine Efficacy in ADCY5-related Dyskinesia - a Retrospective Study Not yet recruiting NCT04469283
3 Pilot Study on Subjective Efficiency of Caffeine in ADCY5-related Dyskinesia Not yet recruiting NCT04351360

Search 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:

40
Heart

Publications for Dyskinesia, Familial, with Facial Myokymia

Articles related to Dyskinesia, Familial, with Facial Myokymia:

# Title Authors PMID Year
1
Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. 6 57 61
24700542 2014
2
Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. 57 6 61
22782511 2012
3
Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder. 61 57 6
11310626 2001
4
ADCY5-related dyskinesia: Broader spectrum and genotype-phenotype correlations. 6
26537056 2015
5
A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia. 6
25545163 2015
6
Adenylyl cyclase type 5 (AC5) is an essential mediator of morphine action. 57
16537460 2006
7
Additional information on familial essential (benign) chorea. 57
152174 1978
8
Familial dyskinesia and facial myokymia (FDFM): Follow-up of a large family and linkage to chromosome 3p21-3q21. 61
18980218 2009
9
Severity of iron overload of proband determines serum ferritin levels in families with HFE-related hemochromatosis: the HEmochromatosis FAmily Study. 61
19008010 2009
10
Evidence for multiple generators in evoked responses using finite difference field mapping: auditory evoked fields. 61
8507549 1993

Variations for Dyskinesia, Familial, with Facial Myokymia

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

6 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ADCY5 NM_183357.2(ADCY5):c.2088+1G>T SNV Pathogenic 208485 rs797045002 GRCh37: 3:123044168-123044168
GRCh38: 3:123325321-123325321
2 ADCY5 NM_183357.2(ADCY5):c.2088+1G>A SNV Pathogenic 218355 rs797045002 GRCh37: 3:123044168-123044168
GRCh38: 3:123325321-123325321
3 ADCY5 NM_183357.2(ADCY5):c.1253G>A (p.Arg418Gln) SNV Pathogenic 218354 rs864309515 GRCh37: 3:123071310-123071310
GRCh38: 3:123352463-123352463
4 ADCY5 NM_183357.2(ADCY5):c.2176G>A (p.Ala726Thr) SNV Pathogenic 162091 rs796065306 GRCh37: 3:123038601-123038601
GRCh38: 3:123319754-123319754
5 ADCY5 NM_183357.2(ADCY5):c.3086T>A (p.Met1029Lys) SNV Pathogenic 162092 rs864309484 GRCh37: 3:123010201-123010201
GRCh38: 3:123291354-123291354
6 ADCY5 NM_183357.2(ADCY5):c.2071A>G (p.Lys691Glu) SNV Likely pathogenic 807532 rs1553726054 GRCh37: 3:123044186-123044186
GRCh38: 3:123325339-123325339
7 ADCY5 NM_183357.2(ADCY5):c.1378A>T (p.Ile460Phe) SNV Likely pathogenic 807533 rs1576606182 GRCh37: 3:123066657-123066657
GRCh38: 3:123347810-123347810
8 ADCY5 NM_183357.2(ADCY5):c.1322C>T (p.Ala441Val) SNV Likely pathogenic 807534 rs1576606282 GRCh37: 3:123066713-123066713
GRCh38: 3:123347866-123347866
9 ADCY5 NM_183357.2(ADCY5):c.3074A>C (p.Glu1025Ala) SNV Likely pathogenic 801996 rs1576526285 GRCh37: 3:123010213-123010213
GRCh38: 3:123291366-123291366
10 ADCY5 NM_183357.2(ADCY5):c.1579C>A (p.Pro527Thr) SNV Likely pathogenic 801998 rs910314734 GRCh37: 3:123049803-123049803
GRCh38: 3:123330956-123330956
11 ADCY5 NM_183357.2(ADCY5):c.459_460del (p.Arg154fs) Deletion Likely pathogenic 801999 rs1576704514 GRCh37: 3:123166933-123166934
GRCh38: 3:123448086-123448087
12 ADCY5 NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) SNV Conflicting interpretations of pathogenicity 162090 rs864309483 GRCh37: 3:123071311-123071311
GRCh38: 3:123352464-123352464
13 ADCY5 NM_183357.2(ADCY5):c.1902G>C (p.Glu634Asp) SNV Conflicting interpretations of pathogenicity 381222 rs61734561 GRCh37: 3:123046510-123046510
GRCh38: 3:123327663-123327663
14 ADCY5 NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile) SNV Uncertain significance 915299 GRCh37: 3:123047546-123047546
GRCh38: 3:123328699-123328699
15 ADCY5 NM_183357.3(ADCY5):c.225_227CGA[4] (p.Asp80del) Microsatellite Uncertain significance 918056 GRCh37: 3:123167154-123167156
GRCh38: 3:123448307-123448309
16 ADCY5 NM_183357.3(ADCY5):c.3613G>A (p.Val1205Met) SNV Uncertain significance 931467 GRCh37: 3:123005576-123005576
GRCh38: 3:123286729-123286729
17 ADCY5 NM_183357.2(ADCY5):c.100G>C (p.Glu34Gln) SNV Uncertain significance 587479 rs1559883468 GRCh37: 3:123167293-123167293
GRCh38: 3:123448446-123448446
18 ADCY5 NM_183357.2(ADCY5):c.304G>A (p.Ala102Thr) SNV Uncertain significance 390053 rs548282891 GRCh37: 3:123167089-123167089
GRCh38: 3:123448242-123448242
19 ADCY5 NM_183357.3(ADCY5):c.2443-14T>A SNV Uncertain significance 1030392 GRCh37: 3:123023044-123023044
GRCh38: 3:123304197-123304197
20 ADCY5 NM_183357.3(ADCY5):c.503G>A (p.Arg168His) SNV Uncertain significance 1030446 GRCh37: 3:123166890-123166890
GRCh38: 3:123448043-123448043
21 ADCY5 NM_183357.3(ADCY5):c.395C>G (p.Pro132Arg) SNV Uncertain significance 1031780 GRCh37: 3:123166998-123166998
GRCh38: 3:123448151-123448151
22 ADCY5 NM_183357.3(ADCY5):c.400G>A (p.Gly134Ser) SNV Uncertain significance 1031781 GRCh37: 3:123166993-123166993
GRCh38: 3:123448146-123448146
23 ADCY5 NM_183357.2(ADCY5):c.1647-17T>C SNV Benign 801997 rs9855969 GRCh37: 3:123047666-123047666
GRCh38: 3:123328819-123328819

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

72
# Symbol AA change Variation ID SNP ID
1 ADCY5 p.Ala726Thr VAR_068821 rs796065306
2 ADCY5 p.Arg418Trp VAR_073778 rs864309483

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

Pathways related to Dyskinesia, Familial, with Facial Myokymia according to KEGG:

36
# Name Kegg Source Accession
1 cAMP signaling pathway hsa04024
2 Glutamatergic synapse hsa04724
3 Cholinergic synapse hsa04725

GO Terms for Dyskinesia, Familial, with Facial Myokymia

Sources for Dyskinesia, Familial, with Facial Myokymia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....