Limb-Girdle Muscular Dystrophy

What is Limb-Girdle muscular dystrophy?

Limb-girdle muscular dystrophy (LGMD) is an inherited group of disorders that cause arm and leg muscle weakness and atrophy. The muscles most affected are those closest to the body (proximal muscles), specifically the shoulder, upper arm, pelvic and thigh muscles. Occasionally, the heart (cardiac) and breathing (respiratory) muscles may be affected. There are many subtypes of LGMD, including some that don’t have LGMD in their name, such as Bethlem myopathy, desmin myopathy, dysferlinopathy, myofibrillar myopathy, sarcoglycanopathies and ZASP-related myopathy. As of late 2012, there are more than 20 different LGMD subtypes, which is a complex and continuously evolving area of research.

LGMD incidence ranges from 1 in 14,500 to 1 in 123,000 individuals. The various LGMD forms are caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in muscle maintenance and repair.

The severity, age of onset, and features of LGMD vary among the many subtypes. Early symptoms may include: difficulty walking, running, and rising from the floor. LGMD treatment may include: physical and occupational therapy, assistive devices, physiotherapy, orthoses and surgery.

 

 

Useful Links

Limb-Girdle Muscular Dystrophy Overview

Provided by the US National Center for Biotechnology Technology.

TREAT-NMD

LGMD Resources includes standards of care, patient registries, patient organizations and LGMD description.

The Jain Foundation

Offers resources for patients in their Learning Centre, a free Diagnostic Tool for physicians, and a Patient Registry aimed at identifying genetically confirmed dysferlinopathy (LGMD2B and Miyoshi) patients.

Orphanet

Portal of information on rare diseases.

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