title: Can clinical signs identify newborns with neuromuscular disorders?
abstract: OBJECTIVE
  To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders.
  
  
  METHODS
  Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%).
  
  
  RESULTS
  Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4% and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1% and 38.4%) and were found rarely in infants with other disorders (specificity 88.6% and 75.0%).
  
  
  CONCLUSIONS
  Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia.
authors.affiliation: Department of Paediatrics, Imperial College, Hammersmith Hospital, London, UK.
authors.forename: Isabella
authors.initials: I
authors.lastname: Vasta
authors.forename: Maria
authors.initials: M
authors.lastname: Kinali
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.forename: Andrea
authors.initials: A
authors.lastname: Guzzetta
authors.forename: Olga
authors.initials: O
authors.lastname: Kapellou
authors.forename: Adnan
authors.initials: A
authors.lastname: Manzur
authors.forename: Frances
authors.initials: F
authors.lastname: Cowan
authors.forename: Francesco
authors.initials: F
authors.lastname: Muntoni
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
mesh_terms: D000465:Algorithms; D003286:Contracture / Q000209:etiology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009123:Muscle Hypotonia / Q000209:etiology*; D018908:Muscle Weakness / Q000209:etiology*; D009468:Neuromuscular Diseases / Q000150:complications* / Q000151:congenital / Q000175:diagnosis*; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity