What are the AAN/AANEM guidelines for referral following diagnosis of limb-girdle or distal muscular dystrophy?

Updated: Aug 17, 2020
  • Author: Twee T Do, MD; Chief Editor: Jeffrey D Thomson, MD  more...
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Answer

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 ECG and structural evaluation (echocardiography or cardiac 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)

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