Limb-Girdle Muscular Dystrophy Type 1b

NIH Rare Diseases : ⁵⁴ Limb-girdle muscular dystrophy type 1B (LGMD1B) is one of many types 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, LGMD1B causes muscle weakness in the lower limbs. The muscle weakness typically affects the muscles closest to the center of the body (proximal muscles) such as the upper legs. The disease is progressive, leading to a loss of muscle strength and bulk over a number of years. Limb-girdle muscular dystrophy type 1B is caused by mutations (changes) to the LMNA gene. The disease is inherited in an autosomal dominant manner. A diagnosis of LGMD1B is suspected in people who have signs and symptoms consistent with the disease, and the diagnosis can be confirmed with laboratory tests. While there are not treatments that can reverse the muscle weakness associated with the disease, supportive treatment can decrease the complications.

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1b, also known as lgmd1b, is related to emery-dreifuss muscular dystrophy 2, autosomal dominant and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1b is LMNA (Lamin A/C). Affiliated tissues include testes.

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