Limb-girdle

Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies with a primary involvement of the pelvic or shoulder girdle. The onset of symptoms typically occurs in childhood or adolescence, although rare adult-onset cases have been reported. LGMD is characterized by progressive muscle wasting which affects predominantly hip and shoulder muscles.

Classification[edit | edit source]

LGMDs are classified into two main groups: LGMD type 1 and LGMD type 2.

LGMD type 1 is also known as the autosomal dominant limb-girdle muscular dystrophy. This type is further classified into several subtypes from LGMD1A to LGMD1H, based on the gene involved.

LGMD type 2 is also known as the autosomal recessive limb-girdle muscular dystrophy. This type is further classified into several subtypes from LGMD2A to LGMD2R, based on the gene involved.

Symptoms[edit | edit source]

The main symptoms of LGMD include:

Progressive muscle weakness
Difficulty with running, hopping, and jumping
A waddling gait
Difficulty with climbing stairs
A decreased range of motion in the joints

Diagnosis[edit | edit source]

Diagnosis of LGMD is based on the clinical history, physical examination, and confirmed by genetic testing. Other tests that may be done include muscle biopsy, electromyography, and MRI of the affected muscles.

Treatment[edit | edit source]

There is currently no cure for LGMD. Treatment is focused on managing the symptoms and includes physical therapy, occupational therapy, speech therapy, and the use of assistive devices.

References[edit | edit source]

Limb-girdle Resources
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