Motor Outcome Measures in Pediatric Patients with Congenital Muscular Dystrophies: A Scoping Review

Congenital muscular dystrophies (CMDs) are a heterogeneous group of genetic neuromuscular disorders. They usually occur at birth or in early childhood, with delayed acquisition of motor milestones, and diffuse muscle weakness. A dystrophic pattern is evident on the muscle biopsy. They are highly var...

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Published inApplied sciences Vol. 13; no. 2; p. 1204
Main Authors Cavallina, Ilaria, D’Alessandro, Rossella, Brusa, Chiara, Panero, Elisa, Rolle, Enrica, Rossi, Francesca, Mongini, Tiziana, Ricci, Federica Silvia
Format Journal Article
LanguageEnglish
Published Basel MDPI AG 01.01.2023
Subjects
Biopsy
Children
Collagen
Congenital diseases
congenital muscular dystrophies
Disease
Genetic variability
Human motion
Longitudinal studies
Medical Subject Headings-MeSH
motor assessment
motor function
motor outcome measures
Muscles
Muscular dystrophy
Mutation
natural history
Neuromuscular diseases
Patients
Pediatrics
Research design
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Summary:Congenital muscular dystrophies (CMDs) are a heterogeneous group of genetic neuromuscular disorders. They usually occur at birth or in early childhood, with delayed acquisition of motor milestones, and diffuse muscle weakness. A dystrophic pattern is evident on the muscle biopsy. They are highly variable both in terms of severity and clinical evolution and in terms of pathogenetic biochemical mechanisms. The aim of this review is to collect and summarize the current knowledge of motor function in pediatric patients with congenital muscular dystrophies and the instruments used to assess it. This scoping review was conducted using the methodology of PRISMA (extension for Scoping Reviews, PRISMA-ScR). Two databases were queried from January 2002 to November 2022. Articles were identified based on title and abstract. Full-text papers published in peer-reviewed English-language journals were selected. It emerged that motor functional aspects are still underinvestigated in CMD patients, probably due to the rarity of these conditions and the phenotypic variability. The scales used to assess motor function are heterogeneous, as are the age groups considered. Finally, the predominant type of research design is cross-sectional; few studies analyze the progression of motor function over time. All these factors make it difficult to correlate the results of different publications and stress the need for more accurate and shared protocols for assessing motor function in these patients.
ISSN:2076-3417
2076-3417
DOI:10.3390/app13021204