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What is LGMD2?

Wide base of knowledge

How long can you live with limb-girdle muscular dystrophy?

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.

What is Dysferlinopathy?

Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting). The diseases in the group are: Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to the feet (distal myopathy)

What causes Emery Dreifuss Muscular Dystrophy?

Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.

Can limb-girdle be cured?

While there are no treatments which directly reverse the muscle weakness associated with this condition, supportive treatment can decrease the complications. There are at least 20 different types of limb-girdle muscular dystrophy.

What is a myopathy?

Myopathy is a general term referring to any disease that affects the muscles that control voluntary movement in the body. Patients experience muscle weakness due to a dysfunction of the muscle fibers. Some myopathies are genetic and can be passed from parent to child.

What is Sarcoglycanopathy?

Sarcoglycanopathies are autosomal recessive muscle-wasting disorders that result from genetic defects of four transmembrane glycoproteins, α-, β-, γ- and δ-sarcoglycan. These four subunits form a distinct complex at the cell membrane of skeletal and cardiac muscle.

Is there a cure for EDMD?

No specific treatment exists for EDMD. Treatment is aimed at the specific symptoms present in each individual. Treatment options may include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some cases to treat contractures or scoliosis.

Is there a cure for Emery-Dreifuss?

Currently, there is not a cure for Emery-Dreifuss muscular dystrophy or treatments that can significantly slow or stop the progression of the disease. However symptom severity can vary, even between affected members of the same family.