Limb-girdle muscular dystrophy (LGMD) comprises a group of inherited muscle-wasting diseases.

As its name suggests, the disease primarily affects muscles of the hips and shoulders, resulting in gradual muscle weakness in those areas. As the disease progresses, muscle atrophy, or wasting, can also affect muscles in the arms, legs, hands, and feet.

LGMD has more than 20 types, all caused by different genetic mutations. Each type is linked to specific physical indicators. Muscle biopsy and genetic testing can identify the particular type of mutation that is causing LGMD.

Although all LGMD types have similar symptoms, the severity, age of onset and progression of symptoms varies wildly among patients and even among those in the same family. Patients who are diagnosed as infants and children generally experience more severe symptoms and quicker disease progression than those diagnosed as adults.

Hip and shoulder muscles

Patients typically first notice a problem with hip and upper leg muscle atrophy. Indicators include a “waddling” gait and trouble standing up from a sitting position, climbing stairs and running. Within 20 to 30 years of the onset of LGMD, the most patients require wheelchairs to get around.

As muscle atrophy continues in the shoulders, back and arms, patients may develop a symptom known as scapular winging, in which the shoulder blades, or scapulae, protrude farther than normal on the patient’s back. Patients may also develop painful spinal deformities that can cause balance problems. They also typically cannot hold their arms above their head or out in front of the body due to increasing shoulder muscle weakness.

Involuntary muscles

Unlike other forms of muscular dystrophy, the disease usually does not affect most involuntary muscles, except the heart muscle and those needed for breathing. This is why digestive, bladder and sexual functions remain unaffected in LGMD patients. Cognitive performance is also not affected.

Patients may develop cardiac issues such as an irregular heartbeat due to cardiomyopathy. Once patients are diagnosed with LGMD, the clinical team will begin to monitor the heart more closely.

LGMD often frequently affects muscles of the diaphragm and chest, increasing the risk of chronic cough, shortness of breath and recurring respiratory tract infections. Yet the disease rarely leads to respiratory failure.

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