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.
|Number of pages||10|
|Journal||Journal of Clinical Neuromuscular Disease|
|Publication status||Published - 2001|
ASJC Scopus subject areas
- Clinical Neurology