Peripheral neuropathy in patients with myotonic dystrophy type 2

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Excerpt

Myotonic dystrophy (DM) is an autosomal dominant progressive multi‐organ disorder. Genetically, two different types of mutations are responsible for DM: DM1 (OMIM #160900)1 and DM2 (OMIM#602688).2 In both types, as well as muscle weakness and myotonia, cardiac involvement, cataracts, baldness, gastro‐intestinal symptoms and fatigue are present.3 The involvement of the peripheral nervous system was found in 25%–45% of DM1 patients.4 Prolonged latencies, slow motor and sensory nerve conduction velocities (MNCV and SNCV, respectively), reduced amplitudes of compound motor or sensory nerve action potentials (CMAP and SNAP, respectively) were described.5 Sural nerve biopsies have shown axonal damage and reduction in myelinated fibre density.10 To our knowledge, only one study was performed in patients with DM2;11 they were without clinical signs or symptoms of polyneuropathy, however 13.33% fulfilled the criteria for polyneuropathy electrophysiologically.11 We performed nerve conduction studies in our patients with DM2 and present in detail the cases with peripheral neuropathy.

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