Familial ALS with SOD1 mutation misdiagnosed with polyradiculopathy and myopathy

Lan Zhou, Erik P. Pioro

Research output: Contribution to journalArticle

1 Scopus citations

Abstract

We report a 54-year-old male with progressive and asymmetrical lower extremity weakness caused by familial amyotrophic lateral sclerosis (FALS) with a Cu/Zn superoxidase dismutase 1 (SOD1) gene mutation. He was initially misdiagnosed with a lumbosacral polyradiculopathy because of spinal stenosis and underwent a laminectomy surgery with no benefit. He was also misdiagnosed with a myopathy due to moderate CK elevation from acute denervation and pseudomyopathic changes on muscle biopsies from chronic denervation. He eventually developed respiratory muscle weakness and upper motor neuron signs, consistent with familial ALS.

Original languageEnglish (US)
Pages (from-to)476-478
Number of pages3
JournalAmyotrophic Lateral Sclerosis
Volume10
Issue number5-6
DOIs
StatePublished - Nov 27 2009

Keywords

  • CK elevation
  • Familial ALS
  • Polyradiculopathy
  • Pseudomyopathic changes
  • SOD1 gene mutation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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