Guideline sources The following summarized guidelines for the evaluation and management of limb-girdle and distal dystrophies are prepared by our editorial team based on guidelines from the American Heart Association (AHA/HRS/ACC 2019) and the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM 2014). 1 2 Guidelines 1. Diagnostic investigations Clinical assessment: use a clinical approach to guide genetic diagnosis based on clinical phenotype, inheritance pattern, and associated manifestations. B Pulmonary function testing: obtain periodic pulmonary function testing in patients with limb- girdle and distal dystrophies with a known high risk of respiratory failure. B 2. Medical management Gene therapy: avoid offering gene therapy, myoblast transplantation, neutralizing antibodies to myostatin, or GH for patients with limb-girdle muscular dystrophy outside of a research study. D https://web.pathway.md/diseases/rec4lDS2cuCiKKlp8 1/3 6/29/23, 5:53 AM Limb-girdle and distal dystrophies Pathway 3. Therapeutic procedures Permanent cardiac pacing: as per ACC 2019 guidelines, consider permanent pacing with additional defibrillator capability if needed and meaningful survival of > 1 year is expected in patients with Limb-girdle muscular dystrophy with a PR interval > 240 milliseconds and LBBB. C 4. Follow-up and surveillance Indications for specialist referral: refer newly diagnosed patients with limb-girdle muscular dystrophy subtype at high risk of cardiac complications for cardiology evaluation, even if they are asymptomatic from a cardiac standpoint. B Clinical findings Symptoms Past medical history Facial weakness Autosomal recessive inheritance Low back discomfort Genetic abnormality Palpitations Pseudohypertrophy Weak shoulder muscle Family history Autosomal dominant inheritance References 1. Narayanaswami P, Weiss M, Selcen D et al. Evidence-based guideline summary: diagnosis and treatment of limb-girdle and distal dystrophies: report of the guideline development subcommittee of the American Academy of Neurology and the practice issues review panel of the American Association of Neuromuscular & Electrodiagnostic Medicine. Neurology. 2014 Oct 14;83 16 1453 63. Open 2. Fred M Kusumoto, Mark H Schoenfeld, Coletta Barrett et al. 2018 ACC/AHA/HRS Guideline on the Evaluation and Management of Patients With Bradycardia and Cardiac Conduction Delay: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society. Circulation. 2019 Aug 20;140 8):e382-e482. Open 3. Michael Glikson, Jens Cosedis Nielsen, Mads Brix Kronborg et al. 2021 ESC Guidelines on cardiac pacing and cardiac resynchronization therapy. Eur Heart J. 2021 Sep 14;42 35 3427 3520. Open 4. Raghav Govindarajan, Katie M Shepard, Lyell K Jones Jr. Diagnosis and treatment of limb-girdle and distal dystrophies: Payment policy perspectives. Neurol Clin Pract. 2015 Oct;5 5 454 459. Open 5. Stanley Jones P Iyadurai, John T Kissel. The Limb-Girdle Muscular Dystrophies and the Dystrophinopathies. Continuum Minneap Minn). 2016 Dec;22 6, Muscle and Neuromuscular Junction https://web.pathway.md/diseases/rec4lDS2cuCiKKlp8 2/3 6/29/23, 5:53 AM Limb-girdle and distal dystrophies Pathway Disorders):1954 1977. Open 6. Alexander Peter Murphy, Volker Straub. The Classification, Natural History and Treatment of the Limb Girdle Muscular Dystrophies. J Neuromuscul Dis. 2015 Jul 22;2(s2) S7 S19. Open 7. Carolina Tesi Rocha, Eric P Hoffman. Limb-girdle and congenital muscular dystrophies: current diagnostics, management, and emerging technologies. Curr Neurol Neurosci Rep. 2010 Jul;10 4 267 76. Open 8. J M Burgunder, L Sch ls, J Baets et al. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders. Eur J Neurol. 2011 Feb;18 2 207 217. Open https://web.pathway.md/diseases/rec4lDS2cuCiKKlp8 3/3