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Congenital myopathies and muscular dystrophies

Heather R Gilbreath1, Diana Castro2, Susan T Iannaccone2

  • 1Department of Advanced Practice, Children's Medical Center of Dallas, 2350 Stemmons Freeway, Dallas, TX 75207, USA.

Neurologic Clinics
|July 20, 2014
PubMed

Insights

Congenital muscular dystrophies (CMD) and myopathies (CM) are genetic disorders with early onset and risks for lung and orthopedic issues. This article details 5 cases to illustrate their clinical spectrum and diagnosis.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Congenital muscular dystrophies (CMD) and congenital myopathies (CM) represent a spectrum of genetic neuromuscular disorders.
  • These conditions typically manifest within the first year of life, presenting significant challenges.

Observation:

  • The article presents five distinct cases: Ullrich congenital muscular dystrophy, nemaline myopathy, centronuclear myopathy, merosin deficiency congenital muscular dystrophy, and core myopathy.
  • These cases highlight the diverse clinical presentations and diagnostic complexities associated with CMDs and CMs.

Findings:

  • Established understanding of disease mechanisms and genotype-phenotype correlations is now available for CMDs and CMs.
  • The presented cases serve to illustrate the broad clinical spectrum and aid in understanding the diagnostic algorithms.

Implications:

  • Improved diagnostic approaches and a clearer understanding of genotype-phenotype correlations can lead to better patient management.
  • This work provides valuable insights for clinicians diagnosing and managing pediatric neuromuscular disorders.

Keywords:
Central core myopathyCentronuclear myopathyCongenital muscular dystrophyCongenital myopathyMerosin deficiency congenital muscular dystrophyNemaline myopathyUllrich congenital muscular dystrophy

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