E-resources
Peer reviewed
Open access
-
Cavallina, Ilaria; D’Alessandro, Rossella; Brusa, Chiara; Panero, Elisa; Rolle, Enrica; Rossi, Francesca; Mongini, Tiziana; Ricci, Federica Silvia
Applied sciences, 01/2023, Volume: 13, Issue: 2Journal Article
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.
Shelf entry
Permalink
- URL:
Impact factor
Access to the JCR database is permitted only to users from Slovenia. Your current IP address is not on the list of IP addresses with access permission, and authentication with the relevant AAI accout is required.
Year | Impact factor | Edition | Category | Classification | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Select the library membership card:
If the library membership card is not in the list,
add a new one.
DRS, in which the journal is indexed
Database name | Field | Year |
---|
Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
---|
Source: Personal bibliographies
and: SICRIS
The material is available in full text. If you wish to order the material anyway, click the Continue button.