Diagnosis and treatment of limb-girdle and distal dystrophies

Raghav Govindarajan, Katie M. Shepard, Lyell Jones

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

Limb-girdle muscular dystrophies (LGMDs) and distal dystrophies are a diverse group of genetically heterogeneous myopathies characterized by an evolving and often confusing nomenclature. Though rare as a group, they are commonly seen in neuromuscular clinics and occasionally in general neurology clinics, and are frequently a source of diagnostic dilemma. A recent evidence-based guideline by the American Academy of Neurology provides a comprehensive analysis of the clinical phenotypes, diagnostic approach, and management principles of the LGMDs and associated disorders. There remain many unanswered questions regarding the role of radiologic and genetic testing, cardiorespiratory screening, and physical therapy in managing these patients. This payment policy article suggests potential solutions to challenging coverage scenarios that result from incomplete or conflicting evidence.

Original languageEnglish (US)
Pages (from-to)454-459
Number of pages6
JournalNeurology: Clinical Practice
Volume5
Issue number5
DOIs
StatePublished - Oct 1 2015

ASJC Scopus subject areas

  • Clinical Neurology

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