Limb-girdle muscular dystrophy (LGMD) is the name given to a varied collection of neuromuscular disorders with different genetic causes. The limb-girdle is the bony structure surrounding the shoulder and hip joints. LGMD is characterized by muscle atrophy in the limb-girdle regions of the body, or in the muscles around the shoulders and hips. Estimates of the incidence of LGMD range from one in 14,500 to one in 123,000 people.
LGMD is divided into two groups, LGMD1 and LGMD2, based on the disorder’s inheritance pattern. LGMD1 is inherited in an autosomal dominant manner, meaning that only one copy of the faulty gene is enough for the disease to appear. LGMD2, on the other hand, is inherited in an autosomal recessive manner, meaning that both copies of the causative gene — one inherited from each parent — must carry a mutation for the disease to develop.
How does LGMD affect the body?
LGMD can develop at any age. In the condition’s early stages, patients may take on an unusual walking gait, have difficulty running, fall more frequently and struggle with standing up after sitting on the floor. Muscle weakness typically first appears in the shoulders, with shoulder blades sticking out to create a winging effect. Further muscle atrophy around the shoulder girdle prevents patients from being able to hold their arms extended or up in the air.
Cardiomyopathy, or atrophy of the heart muscle, affects some forms of LGMD. Patients are also at risk of developing weakened diaphragm muscles required for breathing. These more severe symptoms are associated with particular types of LGMD.
How is LGMD diagnosed?
LGMD is easily confused with other types of muscle-wasting conditions. Given that more than 30 types of LGMD exist, the diagnosis can be difficult. After a physical exam and review of family history, a physician may request a muscle biopsy or electromyography test to confirm the diagnosis. The only way to diagnose a patient with a specific type of LGMD is genetic testing.
How is LGMD treated?
There is currently no cure for LGMD, but existing therapies can help patients manage symptoms of the disease. Treatment plans must be tailored to individual patients, since they may have a different type of LGMD and therefore specific symptoms. Doctors usually suggest physical therapy and orthopedic assistive devices — possibly including a wheelchair — for LGMD patients. Several therapies are being investigated to treat LGMD in its various forms.
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