distal myopathy with anterior tibial onset

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 chr

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.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Myopathy
• Loss of ambulation
• Proximal muscle weakness

Also known as: DMAT; distal muscular dystrophy with anterior tibial onset