Distal anoctaminopathy
Synonyms: MMD3 · Miyoshi muscular dystrophy type 3
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
Distal anoctaminopathy is a rare, autosomal recessive distal myopathy characterized by early adult-onset, slowly progressive, often asymmetrical, lower limb muscle weakness initially affecting the calves (with relative anterior muscle sparing) and later proximal muscle involvement, as well as highly elevated creatine kinase (CK) serum levels.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal anoctaminopathy | MMD3 · Miyoshi muscular dystrophy type 3 |
| fr | Anoctaminopathie distale | Dystrophie musculaire de Miyoshi type 3 · MMD3 |
| de | Anoctaminopathie, distale | MMD3 · Miyoshi-Muskeldystrophie Typ 3 |
| es | Anoctaminopatía distal | Distrofia muscular de Miyoshi tipo 3 · MMD3 |
| it | Anoctaminopatia distale | Distrofia muscolare di Miyoshi, tipo 3 · MMD3 |
| nl | Distale anoctaminopathie | MMD3 · Miyoshi spierdystrofie type 3 |
| pt | Anoctaminopatia distal | |
| pl | Anoktaminopatia dystalna | Dystrofia mięśniowa Miyoshi typu 3 · MMD3 |
| cs | Distální anoktaminopatie | MMD3 · Miyoshiho svalová dystrofie, typ 3 |
| uk | Дистальна аноктамінопатія | Мязова дистрофія Мійоші, тип 3 · MMD3 |
| zh | 远端肌张力障碍 | Miyoshi肌营养不良3型 |
| tr | Distal anoktaminopati | MMD3 · Miyoshi kas distrofisi tip 3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613319 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| MONDO | 0013222 | E | validated | |
| MeSH | C567645 | E | validated | |
| UMLS | C2750076 | 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:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ANO5 | Disease-causing germline mutation(s) in | Assessed | HGNC:27337 | ENSG00000171714 | 608662 | 11p14.3 | anoctamin 5 | 22980764[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 24 cases | Worldwide | Case(s) | Validated | 9673985[PMID]_17132147[PMID]_22402862[PMID]_25864073[PMID]_23663589[PMID]_23606453[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_9673985[PMID]_25864073[PMID] |
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
13 annotations · validated 2018-12-05| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0003323 | Progressive muscle weakness | |
| Frequent (79-30%) | ||
| HP:0009046 | Difficulty running | |
| HP:0001288 | Gait disturbance | |
| HP:0030234 | Highly elevated creatine kinase | |
| HP:0003552 | Muscle stiffness | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0003693 | Distal amyotrophy | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0008997 | Proximal muscle weakness in upper limbs | |
| Very rare (<4-1%) | ||
| HP:0003201 | Rhabdomyolysis | |
| Excluded (0%) | ||
| HP:0009049 | Peroneal muscle atrophy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 9673985[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/399096
- This record as JSON: /data/d/399096.json