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Updated: Jul 6, 2026
A Battery of Motor Tests in a Neonatal Mouse Model of Cerebral Palsy
Published on: November 3, 2016
Spinal muscular atrophy type I mimicking critical illness neuropathy in a paediatric intensive care neonate:
José L Fernández-Torre1, José L Teja, Alvaro Castellanos
1Department of Clinical Neurophysiology, University Hospital Marqués de Valdecilla (IFIMAV), Avenida Valdecilla, s/n, 39008 Santander, Cantabria, Spain. jlfernandez@humv.es
Abstract:
We report the case of a neonate with spinal muscular atrophy type I (SMA type I or Werdnig-Hoffman disease) who was initially misdiagnosis as having critical illness neuropathy. Electromyography (EMG) showed a moderate loss of voluntary and motor unit potentials of both neurogenic and myopathic appearance. Nerve conduction studies revealed the presence of a severe sensory-motor axonal neuropathy. Finally, a biopsy of quadriceps was compatible with the diagnosis of SMA type I. A genetic study confirmed the existence of a homozygous absence of exons 7 and 8 of the telomeric supervival motoneuron gene (SMN1 gene).
