muscular dystrophy-dystroglycanopathy limb-girdle type C4 (MDDGC4)

Pathology

• muscular dystrophy
• muscle biopsy shows dystrophic changes, inflammation & severely decreased alpha-dystroglycan

Genetics

• autosomal recessive
• associated with defects in fukutin (FKTN)

Clinical manifestations

• progressive weakness of the pelvic & shoulder girdle muscles
• severity of the disease depends on age at onset which may vary from early to late childhood or even adulthood
• MDDGC4 is a novel form of LGMD2 & has no brain involvement

Laboratory

• increased serum creatine kinase

Management

• remarkable clinical response to corticosteroids

More general terms

• limb-girdle muscular dystrophy; Erb's muscular dystrophy

Database

• OMIM: https://mirror.omim.org/entry/611588