TY - JOUR
T1 - Diagnosis and treatment of limb-girdle and distal dystrophies
AU - Govindarajan, Raghav
AU - Shepard, Katie M.
AU - Jones, Lyell K.
N1 - Publisher Copyright:
© 2015 American Academy of Neurology.
PY - 2015/10/1
Y1 - 2015/10/1
N2 - 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.
AB - 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.
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U2 - 10.1212/CPJ.0000000000000188
DO - 10.1212/CPJ.0000000000000188
M3 - Article
AN - SCOPUS:84945200551
SN - 2163-0402
VL - 5
SP - 454
EP - 459
JO - Neurology: Clinical Practice
JF - Neurology: Clinical Practice
IS - 5
ER -