Congenital muscular dystrophy: from muscle to brain.

Giovanni Corsello, Martino Ruggieri, Giovanna Vitaliti, Andrea D. Praticò, Enrico Parano, Piero Pavone, Raffaele Falsaperla, Renata Rizzo, Piero Pavone, Raffaele Falsaperla

Research output: Contribution to journalArticlepeer-review

32 Citations (Scopus)

Abstract

Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic lesions but quite variable depending on the different stages and on the severity of the disorder.Recent classification of CMDs have been reported most of which based on the combination of clinical, biochemical, molecular and genetic findings, but genotype/phenotype correlation are in constant progression due to more diffuse utilization of the molecular analysis.In this article, the Authors report on CMDs belonging to the group of dystroglycanopathies and in particular on the most severe forms represented by the Fukuyama CMD, Muscle-Eye-Brain disease and Walker Walburg syndrome.Clinical diagnosis of infantile hypotonia is particularly difficult considering the different etiologic factors causing the lesions, the difficulty in localizing the involved CNS area (central vs. peripheral) and the limited role of the diagnostic procedures at this early age.The diagnostic evaluation is not easy mainly in differentiating the various types of CMDs, and represents a challenge for the neonatologists and pediatricians. Suggestions are reported on the way to reach a correct diagnosis with the appropriate use of the diagnostic means.
Original languageEnglish
Number of pages11
JournalTHE ITALIAN JOURNAL OF PEDIATRICS
Volume42
Publication statusPublished - 2016

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

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