Limb-Girdle Muscular Dystrophy Treatment & Management
- Author: Glenn Lopate, MD; Chief Editor: Nicholas Lorenzo, MD, MHA, CPE more...
No specific treatment is available for any of the LGMD syndromes, though aggressive supportive care is essential. The AAN developed guidelines for treatment of LGMDs.
- Many LGMDs have associated cardiac disease. Newly diagnosed patients with LGMDs known to have cardiac involvement (LGMD1A, LGMD1B, LGMD1C, LGMD1E, LGMD2C-F, LGMD2G, LGMD2I, LGMD2M, LGMD2N, LGMD2R, LGMD2T, LGMD2U, LGMD2W, LGMD2X) should have early referral to a cardiologist. Cardiology referral should also be made for undiagnosed patients with LGMD.
- Testing should include EKG and echocardiography. If these are abnormal or if cardiac symptoms develop, other tests may be needed including cardiac MRI, Holter monitoring, and event monitoring. Cardiac arrhythmias can be a major cause of morbidity and mortality (sudden cardiac death) and placement of a pacemaker can be a life-saving procedure.
- Many LGMDs may have early respiratory involvement (LGMD1A, LGMD1B, LGMD1D, LGMD1E, LGMD1F, LGMD2B, LGMD2C-F, LGMD2G, LGMD2I, LGMD2J, LGMD2K, LGMD2M, LGMD2N, LGMD2O, LGMD2R, LGMD2T, LGMD2U, LGMD2V, LGMD2W).
- Pulmonary function testing should be done in the neurology clinic or through referral to a pulmonologist in most LGMD patients at time of presentation or when symptomatic.
- Patients with excessive daytime sleepiness, frequent arousals, morning headache, or with shortness of breath or abnormal pulmonary function tests should be referred to a pulmonary or sleep medicine clinic for consideration of non-invasive ventilation.
- Early intervention to treat respiratory insufficiency with non-invasive ventilation can help improve function and prolong the patient's life expectancy.
Dysphagia and nutrition
- Patients with dysphagia, aspiration, or weight loss should be evaluated with a modified barium swallow by a speech pathologist.
- Nutritional supplementation or enteral feeding (gastrostomoy tube) may be needed to maintain optimal nutrition and reduce the risk of aspiration pneumonia.
- 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.
Low-impact aerobic exercise under supervision may improve cardiovascular and musculoskeletal function
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. 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.
Orthopedic surgery may be needed to help correct or prevent contractures and scoliosis.
Guidelines issued by the American Academy of Neurology and the American Association of Neuromuscular & Electrodiagnostic Medicine call for referral of patients suspected of having MD to a specialist center for evaluation and genetic testing. Patients at high risk for cardiac complications should be given a cardiology evaluation, even if asymptomatic and those at known risk for respiratory failure should receive periodic pulmonary function testing.[56, 57]
Additional consultation with the following may prove helpful:
In general patients with LGMD lead a sedentary lifestyle due to their weakness. The effect of endurance training has been only rarely studied.
A study of endurance training on patients with LGMD2I and mild weakness was carried out. The patients cycled for 30 minute training sessions progressing up to a maximum of 5 sessions per week over 12 weeks at 65% of their maximum oxygen uptake. Training significantly improved work capacity, paralleled by self-reported improvements. Creatine kinase levels did not increase significantly, and muscle morphology was unaffected. The authors concluded that moderate-intensity endurance training is a safe method to increase exercise performance and daily function in patients with LGMD2I.
However, this was a small study, performed in only one form of LGMD, has not been replicated and lasted only 12 weeks. The long-term repercussions of endurance training in LGMD are not known and caution should be used in recommending endurance training for patients with LGMD.
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