title: Congenital muscular dystrophy with dropped head linked to the LMNA gene in a Brazilian cohort.
abstract: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Lívia M A
authors: LM
authors: Pasqualin
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Umbertina C
authors: UC
authors: Reed
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Thais V M M
authors: TV
authors: Costa
authors: Department of Endocrinology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Elisângela
authors: E
authors: Quedas
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Marco A V
authors: MA
authors: Albuquerque
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Maria B D
authors: MB
authors: Resende
authors: Kaiser SCPMG, Cure CMD, Olathe, Kansas.
authors: Anne
authors: A
authors: Rutkowski
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil.
authors: Gerson
authors: G
authors: Chadi
authors: Department of Neurology, School of Medicine, University of São Paulo, São Paulo, Brazil. Electronic address: zanoteli@terra.com.br.
authors: Edmar
authors: E
authors: Zanoteli
mesh_terms: D001938:Brazil; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006257:Head; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology*; D009154:Mutation; D009333:Neck / Q000473:pathology; D010641:Phenotype; D011187:Posture
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: LMNA gene; congenital muscular dystrophy; dropped-head syndrome; genetics; laminopathy; muscle biopsy