Orthopedic manifestations of congenital muscular dystrophy subtypes in children: Emerging signatures need consolidation: a scoping review

Abstract

Our objective was to screen the literature on congenital muscular dystrophy (CMD) children/adolescents regarding the extent/nature of reporting orthopedic manifestations/deformities and to assess its appropriateness in informing clinical practice/research. We searched PubMed for original research on orthopedic surgical/non-surgical manifestations of CMD. Eligible articles needed to focus on orthopedic manifestations/deformities as one of the study objectives with no restrictions on study designs/types or search period. Eight hundred and thirty articles were initially identified and screened. Following the exclusion of 501 articles for disagreeing titles/abstracts, 329 were available for eligibility assessment. Two hundred and fifty-five articles were excluded for reasons. Of one hundred articles, 15 were captured manually and 11 through pre-submission searches, with 1078 patients included in the final analysis. The most common subtype was Laminin alpha-2 (LAMA2)-relatedCMD. Orthopedic manifestations of CMD are generally underreported and insufficiently detailed. There is reliable evidence that accurate reporting of orthopedic manifestations can be a valuable clinical supplement to the complex differential diagnosis process in collagen VI-related CMD, LAMA2-related-CMD, LMNA-related-CMD, and SEPN1-related CMD (SELENON). For alpha dystroglycan-related CMD, there is insufficient information to delineate a subtype-specific pattern. There is emerging evidence that reporting spine surgery outcomes may facilitate orthopedic decision making. The greatest clinical/research utility was provided by articles with longitudinal, comprehensive, and correlative reporting of larger cohorts. Detailed reporting of the orthopedic phenotype of CMD in future research may further uncover its diagnostic potential.