How are the skeletomuscular manifestations of limb-girdle muscular dystrophy (LGMD) treated?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Skeletal abnormalities, such as scoliosis and contractures can result in discomfort and impairment of gait or activities of daily living.

Neurologists should monitor for these and refer appropriate patients to a physical therapist, orthotist, or orthopedic surgeon

Passive stretching, bracing, and orthopedic procedures can help to allow the patient to remain independent for as long as possible.

As for other hereditary myopathies, a team approach, including a neurologist, pulmonologist, cardiologist, orthopedic surgeon, physiatrist, physical/occupational/speech therapist, nutritionist, orthotist, and counselors, ensures the best therapeutic program.

Exercise can help to counteract the loss of muscle tissue and strength in LGMD. Though there is no certain evidences about the type, frequency, or intensity,  a training with moderate (less than 70% of predicted maximal aerobic capacity) aerobic exercise seems to be useful and safe in muscular dystrophies. [75]

Gene therapy using vectors based on the adeno-associated virus may become a viable treatment option in the future. Preliminary data using adeno-associated virus to deliver full-length α-sarcoglycan to the extensor digitorum brevis muscle in patients with LGMD2D resulted in 6 months of sustained α-sarcoglycan gene expression in 2 of 3 patients. [76] Muscle fiber size increased, and, in the patients with sustained expression, there were no neutralizing antibodies or T-cell immunity to adeno-associated virus.  

A phase 1 trial of a neutralizing antibody against myostatin provided evidence of safety and tolerability. [77]


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