Congenital muscular dystrophy (CMD): clinical features

Evidence-based neurology checklist on congenital muscular dystrophy (cmd): clinical features: Neurological features Floppy baby Proximal or distal muscle weakness Dropped head from axial weakness Muscle atrophy or hypertrophy Muscle contractures Facial weakness and ophthalmoplegia are not marked:…

Neurological features

  • Floppy baby
  • Proximal or distal muscle weakness
  • Dropped head from axial weakness
  • Muscle atrophy or hypertrophy
  • Muscle contractures
  • Facial weakness and ophthalmoplegia are not marked: unlike in congenital myopathies
  • Cardiomyopathy: this is not present at birth

Systemic features

References

  1. Bertini E, D'Amico A, Gualandi F, Petrini S. Congenital muscular dystrophies: a brief review. Semin Pediatr Neurol 2011; 18:277-288.
  2. Bönnemann CG, Wang CH, Quijano-Roy S, et al. Diagnostic approach to the congenital muscular dystrophies. Neuromuscul Disord 2014; 24:289-311.
  3. Karaoglu P, Quizon N, Pergande M, et al. Dropped head congenital muscular dystrophy caused by de novo mutations in LMNA. Brain Dev 2017; 39:361-364.
  4. Pasqualin LM, Reed UC, Costa TV, et al. Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort. Pediatr Neurol 2014; 50:400-406.
  5. Bonati U, Bechtel N, Heinimann K, Rutz E, et al. Congenital muscular dystrophy with dropped head phenotype and cognitive impairment due to a novel mutation in the LMNA gene. Neuromuscul Disord 2014; 24:529-532.
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