Limb-girdle muscular dystrophy type 2B

Disease Overview

Limb-girdle muscular dystrophy type 2B (LGMD2B) is one type of limb-girdle muscular dystrophy. These diseases affect the voluntary muscles, which are the muscles that are moved on purpose, such as the arms, legs, fingers, toes, and facial muscles. Specifically, LGMD2B is a slowly progressive disease that causes muscle weakness and wasting (atrophy) of the pelvic muscles and muscles of the shoulder girdle.[10983] People who are Jewish, and specifically those of Libyan Jewish descent, are more likely to have LGMD2B.[10984]

LGMD2B is caused by variations (also known mutations) in the DYSF gene. The disease is inherited in an autosomal recessive manner. Diagnosis of LGMD2B is suspected in people who have signs and symptoms of the disease, and the diagnosis can be confirmed by a muscle biopsy and genetic testing. While there are no treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease complications.[10983] 

Synonyms

• LGMD2B
• Muscular dystrophy, limb-girdle, type 3
• LGMD3