Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort

Pediatr Neurol. 2014 Apr;50(4):400-6. doi: 10.1016/j.pediatrneurol.2013.11.010. Epub 2013 Nov 21.


Background: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype.

Methods: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene.

Results: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study.

Conclusion: Although lamin A/C--related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.

Keywords: LMNA gene; congenital muscular dystrophy; dropped-head syndrome; genetics; laminopathy; muscle biopsy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brazil
  • Child
  • DNA Mutational Analysis
  • Female
  • Head
  • Humans
  • Lamin Type A / genetics*
  • Magnetic Resonance Imaging
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Muscular Dystrophies / physiopathology*
  • Mutation
  • Neck / pathology
  • Phenotype*
  • Posture


  • LMNA protein, human
  • Lamin Type A