tibial muscular dystrophy
Information
- Disease name
- tibial muscular dystrophy
- Disease ID
- DOID:0111078
- Description
- "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior comparment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12145747, url:https\://www.ncbi.nlm.nih.gov/pubmed/196233, url:https\://www.ncbi.nlm.nih.gov/pubmed/8503797]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT06428136 | Active, not recruiting | N/A | Comparative Effects of Clamshell Technique With EMS vs CTin Iliotibial Band Tightness for Pain and Function | November 1, 2023 | September 1, 2024 |
- Disase is a (Disease Ontology)
- DOID:11720
- Cross Reference ID (Disease Ontology)
- MESH:D049310
- Cross Reference ID (Disease Ontology)
- MIM:600334
- Cross Reference ID (Disease Ontology)
- ORDO:609
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:698846009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1838244
- Exact Synonym (Disease Ontology)
- distal titinopathy
- Exact Synonym (Disease Ontology)
- Finnish tibial muscular dystrophy
- Exact Synonym (Disease Ontology)
- Tardive tibial muscular dystrophy
- Exact Synonym (Disease Ontology)
- TMD
- Exact Synonym (Disease Ontology)
- Udd myopathy
- Exact Synonym (Disease Ontology)
- Udd type distal myopathy
- OrphaNumber from OrphaNet (Orphanet)
- 609