Limb Girdle Muscular Dystrophy

The Limb Girdle Muscular Dystrophies (LGMD) comprise at least a dozen different specific entities. Each of these distinct disorders is in itself rare. Patients with LGMD usually begin to have symptoms in adolescence or early adulthood; however, some forms of LGMD are more severe, with symptoms beginning in childhood. Typically, these symptoms include weakness in the shoulders, hips, upper arms and legs. For example, patients may have progressive difficulty lifting or climbing stairs. In some forms of LGMD, the heart muscle is also affected. Although LGMD is inherited, there is frequently no family history of this disorder.

Diagnosis:

The diagnosis of LGMD is based on clinical assessment, including any available family history, physical examination and supporting laboratory studies. For some LGMDs, it is possible to make a definitive diagnosis through blood tests for specific genetic defects responsible for symptoms. Our genetic counselor will carefully review the history of disease with each family, discuss the principles of inheritance, and help weigh risks and benefits of genetic testing of various family members. In other situations, additional laboratory studies are necessary to make a diagnosis, including electrodiagnostic testing (EMG) and muscle biopsy. Muscle biopsy is often helpful to determine if weakness is caused by muscular dystrophy, an inherited disorder, or by other acquired causes of muscle degeneration, such as inflammation or toxic exposure.

Treatment:

Treatment of LGMD involves a multidisciplinary team. A neurologist oversees the various needs of the patient and directs care. Specialists in rehabilitation medicine are present in the clinic to meet with patients and provide individualized exercise and stretching programs for the treatment of weakness and contractures. On the same day, the patient will be evaluated for the need for splints and orthotics to help with hand or foot function. Equipment needs, as well as social and financial needs are addressed. Other services, such as orthopedic surgery (for scoliosis or contractures) or cardiology (for abnormal heart rhythms or impaired cardiac function), are available as needed and are provided by physicians with special interest and expertise in muscular dystrophy.