Limb-Girdle Muscular Dystrophy Guidelines

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

In 2014, guidelines for the diagnosis and management of patients with limb-girdle or distal muscular dystrophies were issued by the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM). The guidelines were endorsed by the American Academy of Physical Medicine and Rehabilitation, the Child Neurology Society, the Jain Foundation, and the Muscular Dystrophy Association. [78]

The guideline provides algorithms for diagnosis, with the clinical picture, ethnicity, family history, and cardiac and respiratory symptoms all considered in deciding whether genetic testing for muscular dystrophy (MD) is appropriate and which of the many individual tests to select. The guidelines call for referral of patients suspected of having MD to a specialist center for evaluation and genetic testing. The key recommendations are listed below.

Clinicians should use a clinical approach to guide genetic diagnosis based on the clinical phenotype, including the following (level B):

  • Pattern of muscle involvement

  • Inheritance pattern

  • Age at onset

  • Associated manifestations (eg, early contractures, cardiac or respiratory involvement)

In patients with suspected MD in whom initial clinically directed genetic testing does not provide a diagnosis, clinicians may obtain genetic consultation or perform any of the following to identify the genetic abnormality (level C):

  • Parallel sequencing of targeted exomes

  • Whole-exome sequencing

  • Whole-genome screening

  • Next-generation sequencing

Other referral and assessment recommendations include the following:

  • Clinicians should refer newly diagnosed patients for cardiology evaluation, even if they are asymptomatic, to guide appropriate management; the evaluation should include an electrocardiogram (ECG) and structural evaluation (echocardiography or cardiac magnetic resonance imaging [MRI]) (level B)

  • If cardiology evaluation yields abnormal results, or if the patient has episodes of syncope, near-syncope, or palpitations, clinicians should order rhythm evaluation (eg, Holter monitor or event monitor) to guide appropriate management (level B)

  • Refer patients with palpitations, symptomatic or asymptomatic tachycardia or arrhythmias, or signs and symptoms of cardiac failure for cardiology evaluation (level B)

  • Referral of patients with LGMD2A, LGMD2B, and LGMD2L for cardiac evaluation is not obligatory unless they develop overt cardiac signs or symptoms (level B)

  • Refer patients with dysphagia, frequent aspiration, or weight loss for swallowing evaluation or gastroenterology evaluation to assess and manage swallowing function and aspiration risk, to teach patients techniques for safe and effective swallowing (eg, chin tuck maneuver, altered food consistencies), and to consider placement of a gastrostomy/jejunostomy tube for nutritional support (level B)

  • Refer for pulmonary function testing (PFT; spirometry and maximal inspiratory/expiratory force in the upright and, if normal, supine positions) or referral for pulmonary evaluation (to identify and treat respiratory insufficiency) at the time of diagnosis, or if the patient develops pulmonary symptoms (level B)

  • In patients with a known high risk of respiratory failure (eg, those with LGMD2I or MFM), obtain periodic pulmonary function testing (spirometry and maximal inspiratory/expiratory force in the upright position and, if normal, in the supine position) or evaluation by a pulmonologist to identify and treat respiratory insufficiency (level B)

  • Referral of patients with LGMD2B and LGMD2L for pulmonary evaluation is not obligatory unless they are symptomatic (level C)

  • Refer patients with excessive daytime somnolence, nonrestorative sleep (eg, frequent nocturnal arousals, morning headaches, excessive daytime fatigue), or respiratory insufficiency based on PFTs for pulmonary or sleep medicine consultation for consideration of noninvasive ventilation to improve quality of life (level B)

  • Monitor patients for the development of spinal deformities to prevent resultant complications and preserve function (level B)
  • Refer 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)
  • Refer patients to a clinic that has access to multiple specialties (eg, physical therapy, occupational therapy, respiratory therapy, speech and swallowing therapy, cardiology, pulmonology, orthopedics, and genetics) designed specifically to care for patients with MD and other neuromuscular disorders in order to provide efficient and effective long-term care (level B)

  • Clinicians should recommend that patients have periodic assessments by a physical and occupational therapist for symptomatic and preventive screening (level B)

  • 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)

  • 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)

  • Advise patients that aerobic exercise combined with a supervised submaximal strength training program is probably safe (level C)

  • Advise patients that gentle, low-impact aerobic exercise (swimming, stationary bicycling) improves cardiovascular performance, increases muscle efficiency, and lessens fatigue (level C)

  • Counsel patients to hydrate adequately, not to exercise to exhaustion, and to avoid supramaximal, high-intensity exercise (level C)

  • Educate patients 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 after exercise, severe muscle cramping, heaviness in the extremities, and prolonged shortness of breath (level B)

  • Clinicians should not offer patients gene therapy, myoblast transplantation, neutralizing antibody to myostatin, or growth hormone outside of a research study designed to determine the efficacy and safety of the treatment (level R)