Evidence-based Guideline: Diagnosis and Treatment of Limb-Girdle Muscular Dystrophy

Spinal deformities.

I1. Clinicians should monitor patients with muscular dystrophy for the development of spinal deformities to prevent resultant complications and preserve function (Level B).

I2. Clinicians should refer muscular dystrophy patients with musculoskeletal spine deformities to an orthopedic spine surgeon for monitoring and surgical intervention if it is deemed necessary in order to maintain normal posture, assist mobility, maintain cardiopulmonary function, and optimize quality of life (Level B).

Osteoporosis.

J1. Clinicians may choose to evaluate patients with restricted mobility due to muscular dystrophy with bone density studies for osteoporosis in order to institute timely management and minimize fractures (Level C).

There was substantial consensus after round 2. Based on the modifiers (availability, financial burden, variations), the panel selected Level C using informal consensus.

Infection prophylaxis.

K1. Clinicians should recommend pneumococcal polysaccharide vaccine (PPSV23) as per the CDC schedule^e514 and annual influenza vaccine to patients with muscular dystrophy in order to prevent respiratory complications of pneumococcal pneumonia and influenza (Level B).

Rehabilitative Management and Treatment of Muscular Dystrophies

Clinical rehabilitative management.

L1. Clinicians should refer patients with muscular dystrophy to a clinic that has access to multiple specialties (e.g., physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics) designed specifically to care for patients with muscular dystrophy and other neuromuscular disorders in order to provide efficient and effective long-term care (Level B).

L2. Clinicians might discuss opportunities for participation in clinical trials, if available, with muscular dystrophy patients (Level C).

There is a persistent, substantial lack of consensus regarding availability. The recommendation defaults to Level C.

L3. Clinicians should recommend that patients with muscular dystrophy have periodic assessments by a physical and occupational therapist for symptomatic and preventive screening (Level B).

L4. While respecting and protecting patient autonomy, clinicians should proactively anticipate and facilitate patient and family decision making as the disease progresses, including decisions regarding loss of mobility, need for assistance with activities of daily living, medical complications, and end-of-life care (Level B).

L5. For patients with muscular dystrophy, clinicians should prescribe physical and occupational therapy, as well as bracing and assistive devices that are adapted specifically to the patient’s deficiencies and contractures, in order to preserve mobility and function and prevent contractures (Level B).

Strength training and aerobic exercise training.

M1. Clinicians may advise patients with muscular dystrophy that aerobic exercise combined with a supervised submaximal strength training program is probably safe (Level C).

There was substantial consensus after round 2. Based on the modifiers (availability, financial burden, variations), the panel selected Level C using informal consensus.

M2. Clinicians may advise patients with muscular dystrophy that gentle, low-impact aerobic exercise (swimming, stationary bicycling) improves cardiovascular performance, increases muscle efficiency, and lessens fatigue (Level C).

There was substantial consensus after round 2. Based on the modifiers (availability, financial burden, variations), the panel selected Level C using informal consensus.

M3. Clinicians may counsel patients with muscular dystrophy to hydrate adequately, not to exercise to exhaustion, and to avoid supramaximal, high-intensity exercise (Level C).

There was substantial consensus after round 2. Based on the modifiers (availability, financial burden, variations), the panel selected Level C using informal consensus.

M4. Clinicians should educate patients with muscular dystrophy who are participating in an exercise program about the warning signs of overwork weakness and myoglobinuria, which include feeling weaker rather than stronger within 30 minutes after exercise, excessive muscle soreness 24–48 hours following exercise, severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath (Level B).



Medical treatments.

N1. Clinicians should not offer patients with LGMD gene therapy outside of a research study designed to determine the efficacy and safety of the treatment (Level R).

N2. Clinicians should not offer patients with LGMD neutralizing antibody to myostatin outside of a research study designed to determine the efficacy and safety of the treatment (Level R).
N3. Clinicians should not offer patients with BMD myoblast transplantation or subcutaneous growth hormone injections outside of a research study designed to determine the efficacy and safety of the treatment (Level R).
Level R determinations based on insufficient evidence regarding efficacy and judgment of high cost or risk of interventions.