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Related Experiment Videos

Monomelic amyotrophy in siblings.

K Gücüyener1, S Aysun, H Topaloglu

  • 1Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

Pediatric Neurology
|May 1, 1991
PubMed
Summary

Monomelic amyotrophy, a rare motor neuron disorder, presents as localized weakness. This study suggests monomelic amyotrophy may be inherited in an autosomal recessive pattern in affected families.

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Area of Science:

  • Neurology
  • Genetics
  • Rare Diseases

Background:

  • Monomelic amyotrophy is a rare, benign motor neuron disorder.
  • Electrophysiology suggests localized chronic anterior horn cell disease.

Purpose of the Study:

  • To report on two siblings with monomelic amyotrophy.
  • To investigate the inheritance pattern of monomelic amyotrophy.

Main Methods:

  • Clinical case reporting of two affected siblings.
  • Review of electrophysiologic findings.

Main Results:

  • Both siblings presented with proximal muscle weakness localized to one arm.
  • Electrophysiologic studies indicated localized chronic anterior horn cell disease.

Conclusions:

  • Monomelic amyotrophy can manifest as unilateral proximal arm weakness.
  • The findings suggest an autosomal recessive inheritance pattern for monomelic amyotrophy in this family.

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