Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease)

P. B. Kang, K. S. Krishnamoorthy, R. M. Jones, F. D. Shapiro, B. T. Darras

Research output: Contribution to journalArticlepeer-review

Abstract

Spinal muscular atrophy type III (SMA III, Kugelberg-Welander disease) typically presents with symmetric proximal weakness, areflexia, and hypotonia. We present four children with spinal muscular atrophy type III who had atypical phenotypes. Three patients clearly had asymmetric weakness at presentation and two had upper motor neuron signs in the lower extremities (one patient had both features). Two of the patients had prolonged evaluations before the diagnosis was made. All patients had Gowers signs and two had pes planus. In patients with proximal muscle weakness the presence of asymmetrical weakness, upper motor neuron signs, or both, may be compatible with spinal muscular atrophy type III. The diagnosis of spinal muscular atrophy should be considered when other possibilities have been excluded.

Original languageEnglish (US)
Pages (from-to)492-494
Number of pages3
JournalNeuromuscular Disorders
Volume16
Issue number8
DOIs
StatePublished - Aug 2006
Externally publishedYes

Bibliographical note

Funding Information:
This work was supported by the Spinal Muscular Atrophy Foundation (B.T.D., P.B.K.) and the Ellen Pappas Fund for Neuromuscular Research (B.T.D.).

Keywords

  • Anterior horn cell
  • Electromyography
  • Kugelberg-Welander disease
  • Spinal muscular atrophy
  • Survival motor neuron

Fingerprint

Dive into the research topics of 'Atypical presentations of spinal muscular atrophy type III (Kugelberg-Welander disease)'. Together they form a unique fingerprint.

Cite this