distal myopathy with anterior tibial onset

Genetics

• autosomal recessive
• associated with defects in dysferlin

Clinical manifestations

• onset of the disorder is between 14 & 28 years of age
• the anterior tibial muscles are the first muscle group to be involved

Laboratory

• dysferlin in leukocytes (defective, may or may not be present)

More general terms

• muscular dystrophy

Additional terms

• dysferlin; dystrophy-associated fer-1-like protein; fer-1-like protein 1 (DYSF, FER1L1)

Database

• OMIM: https://mirror.omim.org/entry/606768