Congenital muscular dystrophy: from muscle to brain

Ital J Pediatr. 2016 Aug 31;42(1):78. doi: 10.1186/s13052-016-0289-9.


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.

Keywords: Brain involvement; Congenital muscle diseases; Fukuyama congenital muscular dystrophy; Muscle-eye-brain disease; Muscular dystrophies; Walker-Warburg syndrome.

Publication types

  • Review

MeSH terms

  • Brain / pathology*
  • Diagnosis, Differential
  • Humans
  • Infant, Newborn
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / pathology*
  • Severity of Illness Index