Does proximal myotonic myopathy show anticipation?

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Bernd Kruse1, Doris Wöhrle, Peter Steinbach

  • 1Department of Pediatrics, University Medical Centre Hamburg-Eppendorf, Martinistr. 52, 20246 Hamburg.

Human Mutation
|May 20, 2008
PubMed

Insights

Proximal myotonic myopathy (DM2) was identified in a 2-year-old boy, challenging the belief that congenital and childhood forms do not exist. Genetic testing confirmed DM2-typical expansions in the patient and his mother.

Area of Science:

  • Neurology
  • Genetics
  • Myology

Background:

  • Proximal myotonic myopathy (DM2) is typically diagnosed in adults, with no reported cases in individuals under 18.
  • The absence of congenital and childhood forms is considered a hallmark of DM2.

Observation:

  • A 2-year-old boy presented with hypotonia and delayed motor development, exhibiting the youngest known onset of DM2.
  • His mother, diagnosed with late-juvenile onset DM2, experienced worsening symptoms during pregnancy and noted reduced fetal movements.

Findings:

  • Genetic analysis revealed DM2-typical expanded CCTG repeat arrays in the ZNF9 gene in both the child and his mother.
  • The DMPK CTG repeat expansion, characteristic of DM1, was ruled out.

Implications:

  • This case demonstrates that DM2 can manifest in early childhood, expanding the known clinical spectrum of the disease.
  • Early-onset DM2 may be associated with prenatal symptoms like reduced fetal movements and postnatal hypotonia.

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