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Related Experiment Videos

Krabbe's disease presenting as a peripheral neuropathy

H G Marks1, M T Scavina, E H Kolodny

  • 1Division of Neurology, Alfred I. duPont Institute, Wilmington, Delaware 19899, USA.

Muscle & Nerve
|August 1, 1997
PubMed
Summary

Krabbe disease, a rare genetic disorder, can present with atypical peripheral neuropathy symptoms like weakness and sensory loss. Early evaluation for Krabbe disease is crucial in patients with unusual neurological presentations.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Krabbe disease is a lysosomal storage disorder.
  • It typically presents in infancy but can have later onset.
  • Atypical presentations can mimic other neuropathies.