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

Pushpa Narayanaswami, Michael Weiss, Duygu Selcen, William David, Elizabeth Raynor, Gregory Carter, Matthew Wicklund, Richard J. Barohn, Erik Ensrud, Robert C. Griggs, Gary Gronseth, Anthony A. Amato

Research output: Contribution to journalReview article

79 Citations (Scopus)

Abstract

Objective: To review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). Methods: Systematic review and practice recommendation development using the American Academy of Neurology guideline development process. Results: Most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population studied. Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings. The few published therapeutic trials were not designed to establish clinical efficacy of any treatment. Principal recommendations: For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on clinical phenotype, inheritance pattern, and associated manifestations (Level B). Clinicians should refer newly diagnosed patients with an LGMD subtype and high risk of cardiac complications for cardiology evaluation even if they are asymptomatic from a cardiac standpoint (Level B). In patients with LGMD with a known high risk of respiratory failure, clinicians should obtain periodic pulmonary function testing (Level B). Clinicians should refer patients with muscular dystrophy to a clinic that has access to multiple specialties designed specifically to care for patients with neuromuscular disorders (Level B). Clinicians should not offer patients with LGMD gene therapy, myoblast transplantation, neutralizing antibody to myostatin, or growth hormone outside of a research study designed to determine efficacy and safety of the treatment (Level R). Detailed results and recommendations are available on the Neurology® Web site at Neurology.org.

Original languageEnglish (US)
Pages (from-to)1453-1463
Number of pages11
JournalNeurology
Volume83
Issue number16
DOIs
StatePublished - Jan 1 2014
Externally publishedYes

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Limb-Girdle Muscular Dystrophies
Extremities
Medicine
Guidelines
Muscular Dystrophies
Neurology
Therapeutics
Myostatin
Inheritance Patterns
Myoblasts
Neutralizing Antibodies
Cardiology
Respiratory Insufficiency
Genetic Therapy
Growth Hormone
Myocardium
Patient Care
Transplantation
Phenotype
Biopsy

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

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. / Narayanaswami, Pushpa; Weiss, Michael; Selcen, Duygu; David, William; Raynor, Elizabeth; Carter, Gregory; Wicklund, Matthew; Barohn, Richard J.; Ensrud, Erik; Griggs, Robert C.; Gronseth, Gary; Amato, Anthony A.

In: Neurology, Vol. 83, No. 16, 01.01.2014, p. 1453-1463.

Research output: Contribution to journalReview article

Narayanaswami, Pushpa ; Weiss, Michael ; Selcen, Duygu ; David, William ; Raynor, Elizabeth ; Carter, Gregory ; Wicklund, Matthew ; Barohn, Richard J. ; Ensrud, Erik ; Griggs, Robert C. ; Gronseth, Gary ; Amato, Anthony A. / 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. In: Neurology. 2014 ; Vol. 83, No. 16. pp. 1453-1463.
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AU - Weiss, Michael

AU - Selcen, Duygu

AU - David, William

AU - Raynor, Elizabeth

AU - Carter, Gregory

AU - Wicklund, Matthew

AU - Barohn, Richard J.

AU - Ensrud, Erik

AU - Griggs, Robert C.

AU - Gronseth, Gary

AU - Amato, Anthony A.

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N2 - Objective: To review the current evidence and make practice recommendations regarding the diagnosis and treatment of limb-girdle muscular dystrophies (LGMDs). Methods: Systematic review and practice recommendation development using the American Academy of Neurology guideline development process. Results: Most LGMDs are rare, with estimated prevalences ranging from 0.07 per 100,000 to 0.43 per 100,000. The frequency of some muscular dystrophies varies based on the ethnic background of the population studied. Some LGMD subtypes have distinguishing features, including pattern of muscle involvement, cardiac abnormalities, extramuscular involvement, and muscle biopsy findings. The few published therapeutic trials were not designed to establish clinical efficacy of any treatment. Principal recommendations: For patients with suspected muscular dystrophy, clinicians should use a clinical approach to guide genetic diagnosis based on clinical phenotype, inheritance pattern, and associated manifestations (Level B). Clinicians should refer newly diagnosed patients with an LGMD subtype and high risk of cardiac complications for cardiology evaluation even if they are asymptomatic from a cardiac standpoint (Level B). In patients with LGMD with a known high risk of respiratory failure, clinicians should obtain periodic pulmonary function testing (Level B). Clinicians should refer patients with muscular dystrophy to a clinic that has access to multiple specialties designed specifically to care for patients with neuromuscular disorders (Level B). Clinicians should not offer patients with LGMD gene therapy, myoblast transplantation, neutralizing antibody to myostatin, or growth hormone outside of a research study designed to determine efficacy and safety of the treatment (Level R). Detailed results and recommendations are available on the Neurology® Web site at Neurology.org.

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