Limb-girdle muscular dystrophies Health Article

Definition

Limb-girdle muscular dystrophies include at least 18 different inherited disorders, which first affect the muscles around the shoulder girdle and hips. These diseases get worse, and may eventually involve other muscles.

Alternative Names

Muscular dystrophy - limb-girdle type (LGMD)

Causes, incidence, and risk factors

Limb-girdle muscular dystrophies are a large group of genetic diseases in which there is muscle weakness and wasting (muscular dystrophy).

In most cases, both parents must pass on the defective gene for a child to have the disease (autosomal recessive disorder). However, in some rare types only one parent needs to pass on the bad gene to affect the child (autosomal dominant disorder). For some of these conditions, the defective gene has been discovered. For others, the gene is not yet known.

An important risk factor is having a family member with muscular dystrophy.

Symptoms

Typically, the first sign is pelvic muscle weakness (difficulty standing from a sitting position without using the arms, difficulty climbing stairs). The weakness starts in childhood to young adulthood.

Other symptoms include:

• Abnormal, sometimes waddling, walk
• Joints that are fixed in a contracted position (late in the disease)
• Large and muscular-looking calves (pseudohypertrophy), which are not actually strong
• Loss of muscle mass, thinning of certain body parts
• Low back pain
• Palpitations or passing-out spells
• Shoulder weakness
• Weakness of the muscles in the face (later in the disease)
• Weakness in the muscles of the lower legs, feet, lower arms, and hands (later in the disease)

Signs and tests

• Blood creatine kinase levels
• DNA testing
• Echocardiogram or ECG
• Electromyogram (EMG) testing
• Muscle biopsy

Treatment

There are no known treatments that directly reverse the muscle weakness. Gene therapy may become available in the future. Supportive treatment can decrease the complications of the disease.

Management is tailored to the patient and his or her symptoms. It includes:

• Heart monitoring
• Mobility aids
• Physical therapy
• Respiratory care
• Weight control

Surgery is occasionally needed.

Support Groups

The Muscular Dystrophy Association is an excellent resource (800-572-1717).