Type I spinal muscular atrophy can mimic sensory-motor axonal neuropathy

J Child Neurol. 2005 Feb;20(2):147-50. doi: 10.1177/08830738050200022101.

Abstract

Spinal muscular atrophy is a group of allelic autosomal recessive disorders characterized by progressive motoneuron loss, symmetric weakness, and skeletal muscle atrophy. It is traditionally considered a pure lower motoneuron disorder, for which a current definitive diagnosis is now possible by molecular genetic testing. We report two newborns with a clinical phenotype consistent with that of spinal muscular atrophy type I and nerve conduction studies and electromyography suggesting more extensive sensory involvement than classically described with spinal muscular atrophy. Molecular testing confirmed spinal muscular atrophy in patient 1 but not in patient 2. Thus, in the setting of a suspected congenital axonal neuropathy, molecular testing might be necessary to distinguish spinal muscular atrophy type I from infantile polyneuropathy.

Publication types

  • Case Reports

MeSH terms

  • Diagnosis, Differential
  • Hereditary Sensory and Motor Neuropathy / pathology*
  • Hereditary Sensory and Motor Neuropathy / physiopathology*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Neural Conduction / physiology
  • Spinal Muscular Atrophies of Childhood / genetics
  • Spinal Muscular Atrophies of Childhood / pathology*
  • Spinal Muscular Atrophies of Childhood / physiopathology*
  • Spinal Nerves / pathology
  • Spinal Nerves / physiopathology