Proximal Myotonic Myopathy: Report on Italian Families and Literature Review

Giovanni Meola, Valeria Sansone, Eugenio Vitelli, Michelangelo Mancuso, Gabriele Siciliano

Research output: Contribution to journalArticlepeer-review

Abstract

Despite the more recent genetic classification of the novel myotonic dystrophies into at least two distinct myotonic dystrophy (DM) loci (DM1, DM2/PROMM/PDM), the clinical characteristics of these dominant myotonic syndromes often blur. The multisystemic nature of these disorders leads to a spectrum of symptoms and signs that emphasize the similarities and differences between these diseases. This review focuses on the clinical, laboratory, and genetic findings in 3q-linked and unlinked Italian families with proximal myotonic myopathy (PROMM). From a neuromuscular and cardiac point of view, we present follow-up data from 25 patients studied serially over a 6-year period. We also present data on central nervous system involvement following neuropsychologic and neuroimaging studies in this same period of time.

Original languageEnglish
Pages (from-to)201-210
Number of pages10
JournalJournal of Clinical Neuromuscular Disease
Volume2
Issue number4
Publication statusPublished - 2001

ASJC Scopus subject areas

  • Clinical Neurology

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