Distal myopathy, Tateyama type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal myopathy, Tateyama type | |
| fr | Myopathie distale type Tateyama | |
| de | Myopathie, distale, Typ Tateyama | |
| es | Miopatía distal tipo Tateyama | |
| it | Miopatia distale, tipo Tateyama | |
| nl | Distale myopathie, Tateyama-type | |
| pt | Miopatia distal, tipo Tateyama | |
| pl | Miopatia dystalna typ Tateyamiego | |
| cs | Distální myopatie, Tateyamův typ | |
| uk | Дистальна міопатія, тип Татеяма | |
| zh | 立山型远端肌病 | |
| tr | Distal miyopati, Tateyama tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614321 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | not yet validated |
| MONDO | 0013686 | E | validated | |
| UMLS | C3280443 | 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:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:207078Qualitative or quantitative defects of caveolin-3
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CAV3 | Disease-causing germline mutation(s) in | Assessed | HGNC:1529 | ENSG00000182533 | 601253 | 3p25.3 | caveolin 3 | 11805270[PMID]_18930476[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_11805270[PMID]_15580566[PMID]_18930476[PMID] |
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 11805270[PMID]_15580566[PMID]_18930476[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
18 annotations · validated 2019-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0030089 | Abnormal muscle fiber protein expression | |
| HP:0003707 | Calf muscle pseudohypertrophy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| HP:0001761 | Pes cavus | |
| HP:0009063 | Progressive distal muscle weakness | |
| HP:0009005 | Weakness of the intrinsic hand muscles | |
| Occasional (29-5%) | ||
| HP:0008962 | Calf muscle hypoplasia | |
| HP:0002312 | Clumsiness | |
| HP:0003124 | Hypercholesterolemia | |
| HP:0003760 | Percussion-induced rapid rolling muscle contractions | |
| Very rare (<4-1%) | ||
| HP:0003326 | Myalgia | |
| HP:0000467 | Neck muscle weakness | |
| HP:0001962 | Palpitations | |
| Excluded (0%) | ||
| HP:0001284 | Areflexia | |
| HP:0002936 | Distal sensory impairment | |
Annotation source: 11805270[PMID]_18930476[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488650
- This record as JSON: /data/d/488650.json