Congenital myopathies: clinical phenotypes and new diagnostic tools

Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z.


Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy. However, different genes have now been identified as associated with the various phenotypic and histological expressions of these disorders, and in recent years, because of their unexpectedly wide genetic and clinical heterogeneity, next-generation sequencing has increasingly been used for their diagnosis. We reviewed clinical and genetic forms of congenital myopathy and defined possible strategies to improve cost-effectiveness in histological and imaging diagnosis.

Keywords: Congenital myopathy; Muscle MRI; Muscle biopsy; Next generation sequencing.

Publication types

  • Review

MeSH terms

  • Biopsy, Needle
  • Disease Progression
  • Female
  • Genetic Predisposition to Disease / epidemiology*
  • Genotype
  • Humans
  • Immunohistochemistry
  • Incidence
  • Magnetic Resonance Imaging / methods
  • Male
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / epidemiology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Myopathies, Nemaline / diagnosis*
  • Myopathies, Nemaline / epidemiology
  • Myopathies, Nemaline / genetics
  • Myopathies, Nemaline / pathology
  • Prognosis
  • Risk Assessment
  • Severity of Illness Index