Familial dyskinesia and facial myokymia
Synonyms: FDFM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Familial dyskinesia and facial myokymia is a rare paroxysmal movement disorder, with childhood or adolescent onset, characterized by paroxysmal choreiform, dystonic, and myoclonic movements involving the limbs (mostly distal upper limbs), neck and/or face, which can progressively increase in both frequency and severity until they become nearly constant. Patients may also present with delayed motor milestones, perioral and periorbital dyskinesias, dysarthria, hypotonia, and weakness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial dyskinesia and facial myokymia | FDFM |
| fr | Dyskinésie familiale avec myokymie faciale | |
| de | Familiäre Dyskinesie und faziale Myokymie | = en |
| es | Discinesia familiar y mioquimia facial | = en |
| it | Discinesia familiare e miochimia facciale | = en |
| nl | Familiale dyskinesie en faciale myokymie | = en |
| pt | Discinésia familiar e mioquimia facial | |
| pl | Rodzinna dyskinezja i miokimia twarzy | = en |
| cs | Familiární dyskineze a faciální myokymie | = en |
| uk | Сімейна дискінезія та міокімія обличчя | = en |
| zh | 家族性运动障碍与面肌颤搐 | = en |
| tr | Ailesel diskinezi ve yüz miyokimi | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606703 | BTNT | validated | |
| OMIM | 619647 | BTNT | validated | |
| ICD-10 | G51.4 | NTBT | attributed | validated |
| MONDO | 0800028 | E | validated | |
| MeSH | C564676 | E | validated | |
| UMLS | C1847627 | E | validated | |
| GARD | 12722 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:306768Rare paroxysmal movement disorder
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ADCY5 | Disease-causing germline mutation(s) in | Assessed | HGNC:236 | ENSG00000173175 | 600293 | 3q21.1 | adenylate cyclase 5 | 22782511[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 11310626[PMID]_22782511[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000317 | Facial myokymia | Diagnostic criterion |
| HP:0002310 | Orofacial dyskinesia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0008936 | Axial hypotonia | |
| HP:0002072 | Chorea | |
| HP:0001260 | Dysarthria | |
| HP:0001332 | Dystonia | |
| HP:0001288 | Gait disturbance | |
| HP:0002509 | Limb hypertonia | |
| HP:0001336 | Myoclonus | |
| HP:0002322 | Resting tremor | |
| Occasional (29-5%) | ||
| HP:0001635 | Congestive heart failure | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0001347 | Hyperreflexia | |
| Excluded (0%) | ||
| HP:0001249 | Intellectual disability | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 22782511[PMID]_11310626[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324588
- This record as JSON: /data/d/324588.json