tibial muscular dystrophy

Term ID

DOID:0111078

Synonyms

• distal titinopathy
• Finnish tibial muscular dystrophy
• Tardive tibial muscular dystrophy
• TMD
• Udd myopathy
• Udd type distal myopathy

Definition

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. (3)

References

• MESH:D049310
• OMIM:600334
• ORDO:609
• SNOMEDCT_US_2023_03_01:698846009
• UMLS_CUI:C1838244

Ontology

Human Disease   ( DOID:0111078 )