This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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
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