1. Muscle pathology in 57 patients with myotonic dystrophy type 2.
- Author
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Benedikt G.H. Schoser, Christiane Schneider-Gold, Wolfram Kress, Hans-Hilmar Goebel, Peter Reilich, Manuela C. Koch, Dieter E. Pongratz, Klaus V. Toyka, Hanns Lochmüller, and Kenneth Ricker
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MYOTONIA atrophica , *BIOPSY , *DIAGNOSTIC specimens , *CLINICAL pathology , *NEUROMUSCULAR diseases - Abstract
We evaluated muscle biopsies from 57 patients with genetically confirmed myotonic dystrophy type 2/proximal myotonic myopathy (DM2/PROMM). Light microscopy showed myopathic together with denervation-like changes in almost all biopsies obtained from four different muscles: increased fiber size variation, internal nuclei, small angulated fibers, pyknotic nuclear clumps, and predominant type 2 fiber atrophy. Quantitative morphometry in 18 biopsies that were immunostained for myosin heavy chain confirmed a predominance of nonselective type 2 fiber atrophy. These histological changes were similar in all patients regardless of the site of biopsy, the predominant clinical symptoms and signs, and the clinical course. It is likely that, in a number of undiagnosed patients, DM2 is the underlying disorder. With a better understanding of the histopathological pattern in DM2, biopsies from patients with undiagnosed neuromuscular disorders can now be reevaluated. Muscle Nerve 29: 275281, 2004 [ABSTRACT FROM AUTHOR]
- Published
- 2004
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