You are using an outdated browser. Please upgrade your browser to improve your experience.

tibial muscular dystrophy

Disease Summary
Associated Targets (2)
Tclin

1

Tbio

1


Mondo Description 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.
Uniprot Description Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later.
Disease Ontology Description A distal muscular dystrophy 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 TTN gene on chromosome 2q31.
Mondo Term and Equivalent IDs
MONDO:0010870:  tibial muscular dystrophy
Orphanet:609: 
SCTID:698846009: 
UMLS:C1450052: 
UMLS:C1838244: