Tongue fasciculations in an infant with spinal muscular atrophy type 1

Eleni Z Giannopoulou1, Thomas Martin2, Brunhilde Wirth3

  • 1Department of General Pediatrics and Neonatology, University Children's Hospital of Saarland Kirrberger Street, 66421, Homburg (Saar), Germany.

Clinical Case Reports
|October 29, 2015
PubMed

Insights

Infants with muscular hypotonia and tongue fasciculations may have spinal muscular atrophy (SMA). A rare SMN1 gene mutation was identified in one infant, suggesting SMA.

Area of Science:

  • Pediatric Neurology
  • Genetics
  • Neonatology

Background:

  • Infantile muscular hypotonia is a significant clinical finding.
  • Spinal muscular atrophy (SMA) is a common genetic neuromuscular disorder causing hypotonia.
  • Early diagnosis of SMA is crucial for timely intervention.

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