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myotonic dystrophy 2 (proximal myotonic myopathy)

Epidemiology: - less common than myotonic dystrophy 1 Pathology: - neurodegenerative disorder Genetics: - autosomal dominant - associated with defects in CNBP* - CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene Clinical manifestations: - milder than myotonic dystrophy 1 [3] - proximal myotonia - proximal muscle weakness - myalgias - cardiac arrhythmias [3] Laboratory: - CNBP gene CCTG repeat analysis

General

myotonic dystrophy; Steinert disease; myotonia dystrophica

Database Correlations

OMIM 602668

References

  1. UniProt :accession P62633
  2. OMIM :accession 602668
  3. Medical Knowledge Self Assessment Program (MKSAP) 15, 17, American College of Physicians, Philadelphia 2009, 2015