ORPHA:609
Tibial muscular dystrophy
Synonyms: Finnish tibial muscular dystrophy · TMD · Udd myopathy · Distal myopathy, Udd type · Distal titinopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tibial muscular dystrophy | Finnish tibial muscular dystrophy · TMD · Udd myopathy · Distal myopathy, Udd type · Distal titinopathy |
| fr | Dystrophie musculaire tibiale | DMT · Myopathie d'Udd · Myopathie distale type Udd · TMD · Titinopathie distale |
| de | Muskeldystrophie, tibiale | Distale Myopathie nach Udd · Distale Titinopathie · Finnische tibiale Muskeldystrophie · TMD · Udd-Myopathie |
| es | Distrofia muscular tibial | Distrofia muscular tibial finlandesa · Miopatía de Udd · Miopatía distal tipo Udd · TMD · Titinopatía distal |
| it | Distrofia muscolare della tibia | Distrofia muscolare tibiale finlandese · Miopatia di Udd · Miopatia distale, tipo Udd · TMD · Titinopatia distale |
| nl | Tibiale spierdystrofie | Distale myopathie, Udd-type · Distale titinopathie · Finse tibiale spierdystrofie · Myopathie, Udd-type · TMD |
| pt | Distrofia muscular tibial | Miopatia tibial de Udd |
| pl | Piszczelowa dystrofia mięśniowa | Fińska piszczelowa dystrofia mięsniowa · Miopatia dystalna, typ Udd · Miopatia Udd · Tytynopatia dystalna · TMD |
| cs | Tibiální svalová dystrofie | Distální titinopatie · Finnishova tibiální svalová dystrofie · TMD · Uddova myopatie · Distální mopatie, Uddův typ |
| uk | Мязова дистрофія великогомілкової кістки | Дистальна міопатія, тип Udd · Дистальна титинопатія · Фінська мязова дистрофія великогомілкової кістки · TMD · Міопатія Удд |
| zh | 胫骨肌营养不良症 | 芬兰型胫骨肌营养不良症 |
| tr | Tibial kas distrofisi | TMD · Udd miyopati · Distal titinopati · Distal miyopati, Udd tipi · Fin tipi tibiyal kas distrofisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600334 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0010870 | E | validated | |
| UMLS | C1450052 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209053Qualitative or quantitative defects of titin
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TTN | Disease-causing germline mutation(s) in | Assessed | HGNC:12403 | ENSG00000155657 | 188840 | 2q31.2 | titin | 20301498[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 6 / 100 000 | Europe | Value and class | Validated | 24395473[PMID] |
| Point prevalence | 1-5 / 10 000 | 20 / 100 000 | Finland | Value and class | Validated | 24395473[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.
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HPO phenotypes
19 annotations · validated 2018-07-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0031374 | Ankle weakness | |
| HP:0003687 | Centrally nucleated skeletal muscle fibers | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0001288 | Gait disturbance | |
| HP:0009058 | Increased muscle lipid content | |
| HP:0003557 | Increased variability in muscle fiber diameter | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0009049 | Peroneal muscle atrophy | |
| HP:0003805 | Rimmed vacuoles | |
| HP:0003376 | Steppage gait | |
| Occasional (29-5%) | ||
| HP:0002312 | Clumsiness | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0003731 | Quadriceps muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0008959 | Distal upper limb muscle weakness | |
| Excluded (0%) | ||
| HP:0001638 | Cardiomyopathy | |
| HP:0002878 | Respiratory failure | |
| HP:0009077 | Weakness of long finger extensor muscles | |
Annotation source: 22197426[PMID]_15728284[PMID]_9855539[PMID]_9497249[PMID]_12891679[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/609
- This record as JSON: /data/d/609.json