Dystonia 28
Synonyms: DYT28 · KMT2B-related dystonia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dystonia 28 | DYT28 · KMT2B-related dystonia |
| fr | Dystonie 28 | DYT28 · Dystonie KMT2B |
| de | Dystonie 28 | DYT28 · KMT2B-assoziierte Dystonie |
| es | Distonía 28 | DYT28 · Distonía asociada a KMT2B · Distonía asociada al gen KMT2B |
| it | Distonia 28 | DYT28 · Distonia correlata a KMT2B |
| nl | Dystonie 28 | DYT28 · KMT2B-gerelateerde dystonie |
| pt | Distonia 28 | |
| pl | Dystonia 28 | = en |
| cs | Dystonie 28 | = en |
| uk | Дистонія 28 | DYT28 · Дистонія, повязана з КМТ2В |
| zh | Dystonia 28 | = en |
| tr | Dystonia 28 | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617284 | E | validated | |
| ICD-10 | G24.8 | NTBT | attributed | validated |
| MONDO | 0015004 | E | validated | |
| UMLS | C4310633 | 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 (2):
- ORPHA:391711Persistent combined dystonia
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KMT2B | Disease-causing germline mutation(s) in | Assessed | HGNC:15840 | ENSG00000272333 | 606834 | 19q13.12 | lysine methyltransferase 2B | 27992417[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 160 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | 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
27 annotations · validated 2022-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007325 | Generalized dystonia | |
| HP:0033049 | Globus pallidus hypointensity on susceptibility-weighted imaging | |
| Frequent (79-30%) | ||
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0001249 | Intellectual disability | |
| HP:0031959 | Leg dystonia | |
| HP:0000252 | Microcephaly | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0004322 | Short stature | |
| HP:0000473 | Torticollis | |
| Occasional (29-5%) | ||
| HP:0007256 | Abnormal pyramidal sign | |
| HP:0002425 | Anarthria | |
| HP:0000739 | Anxiety | |
| HP:0031960 | Arm dystonia | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0000414 | Bulbous nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000716 | Depression | |
| HP:0001618 | Dysphonia | |
| HP:0000821 | Hypothyroidism | |
| HP:0000276 | Long face | |
| HP:0000639 | Nystagmus | |
| HP:0012048 | Oromandibular dystonia | |
| HP:0000826 | Precocious puberty | |
| Very rare (<4-1%) | ||
| HP:0000486 | Strabismus | |
| Excluded (0%) | ||
| HP:0011968 | Feeding difficulties | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 33150406[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589618
- This record as JSON: /data/d/589618.json