Limb girdle syndrome

Limb Girdle Syndrome is a term used to describe a group of diseases that cause weakness and wasting of the muscles in the arms and legs. The muscles most affected are those closest to the body (proximal muscles), specifically the muscles of the shoulders, hips, thighs and upper arms.

Symptoms[edit | edit source]

The symptoms of Limb Girdle Syndrome can vary greatly from person to person. Some people may experience mild symptoms, while others may have severe disability. The most common symptoms include:

Muscle weakness
Difficulty walking
Difficulty lifting objects
Difficulty climbing stairs
Falls
Muscle cramps
Muscle pain

Causes[edit | edit source]

Limb Girdle Syndrome is caused by mutations in certain genes. These mutations lead to the production of proteins that are necessary for the normal functioning of muscle cells. When these proteins are missing or not functioning properly, the muscle cells become damaged and die, leading to the symptoms of Limb Girdle Syndrome.

Diagnosis[edit | edit source]

The diagnosis of Limb Girdle Syndrome is based on the symptoms, medical history, and physical examination of the patient. Additional tests may be needed to confirm the diagnosis, such as:

Blood tests
Muscle biopsy
Genetic testing
Electromyography (EMG)
Magnetic resonance imaging (MRI)

Treatment[edit | edit source]

There is currently no cure for Limb Girdle Syndrome. Treatment is focused on managing the symptoms and improving the quality of life. This may include:

Physical therapy
Occupational therapy
Speech therapy
Assistive devices
Medications to manage symptoms

References[edit | edit source]

Limb girdle syndrome Resources
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