Distal myopathy with anterior tibial onset
Synonyms: Distal anterior compartment myopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal myopathy with anterior tibial onset | Distal anterior compartment myopathy |
| fr | Myopathie distale du muscle tibial antérieur | Myopathie du compartiment distal antérieur |
| de | Distale Myopathie mit Beginn am vorderen Schienbein | Distale Myopathie des vorderen Kompartiments |
| es | Miopatía distal de inicio en el músculo tibial anterior | Miopatía de compartimento distal anterior |
| it | Miopatia distale ad esordio nella porzione anteriore della tibia | |
| nl | Distale myopathie met anterieure tibiale aanvang | Distale anterieure compartimentmyopathie |
| pt | Miopatia distal com início tibial anterior | |
| pl | Miopatia dystalna o początku w mięśniu piszczelowym przednim | = en |
| cs | Distální myopatie anteriorního kompartmentu | Distální myopatie s anteriorním tibiálním začátkem |
| uk | Дистальна міопатія з початком на передній частині гомілки | Дистальна міопатія переднього відділу ока |
| zh | 前胫骨发病远端肌病 | 远端前群肌病 |
| tr | Anterior tibial başlangıçlı distal miyopati | Distal anterior kompartman miyopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606768 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0011721 | E | validated | |
| MeSH | C564664 | E | validated | |
| UMLS | C1847532 | 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:206653Autosomal recessive distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207073Qualitative or quantitative defects of dysferlin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DYSF | Disease-causing germline mutation(s) in | Assessed | HGNC:3097 | ENSG00000135636 | 603009 | 2p13.2 | dysferlin | 19493611[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 11198284[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11198284[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 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0030114 | Absent muscle fiber dysferlin | |
| Frequent (79-30%) | ||
| HP:0003738 | Exercise-induced myalgia | |
| HP:0009073 | Progressive proximal muscle weakness | |
| HP:0008963 | Tibialis muscle weakness | |
| Occasional (29-5%) | ||
| HP:0003438 | Absent Achilles reflex | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0003325 | Limb-girdle muscle weakness | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Very rare (<4-1%) | ||
| HP:0031177 | Finger flexor weakness | |
| Excluded (0%) | ||
| HP:0000467 | Neck muscle weakness | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 11198284[PMID]_9731526[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/178400
- This record as JSON: /data/d/178400.json