distal myopathy with anterior tibial onset (DOID:0111187)
Alliance: disease page
Synonyms: distal muscular dystrophy with anterior tibial onset; DMAT
Alt IDs: OMIM:606768, ORDO:178400
Definition: A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.