Werdnig‐Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance

Kevin B. Boylan, David R. Cornblath

Research output: Contribution to journalArticle

7 Scopus citations

Abstract

We report on a family in which both Werdnig‐Hoff‐mann disease (severe infantile‐onset spinal muscular atrophy) and chronic distal spinal muscular atrophy ocurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig‐Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.

Original languageEnglish (US)
Pages (from-to)404-407
Number of pages4
JournalAnnals of neurology
Volume32
Issue number3
DOIs
StatePublished - Sep 1992

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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