The clinical features of myotonic dystrophy type 1 (DM1) and type 2 (DM2) may present striking similarity, whereas, in some cases, the DM2 phenotype may be so mild that the diagnosis may be missed. Therefore, the identification of disease-specific histopathological patterns for DM1 and DM2 may help clinicians to correctly address genetic studies. We performed a comparative morphological and morphometric analysis on muscle biopsies from 10 DIM 1 and 11 DM2 patients, comparing type 1 and type 2 fibers as to: fiber type predominance, transverse diameter, atrophy and hypertrophy factors, and prevalence of central nuclei. In DM1 cases we observed preferential type 1 fiber atrophy and a higher prevalence of central nucleation among type 1 fibers in all cases. In DM2 muscle biopsies, high rates of atrophic and hypertrophic type 2 fibers were observed in most cases, and preferential central nucleation in type 2 fibers was present in all cases. As opposed to DM1, in which type 1 fibers display most of the histological changes, preferential atrophy and hypertrophy of type 2 fibers may be considered as markers of DM2. A higher prevalence of central nuclei among hypertrophic type 2 fibers has a predictive value for the diagnosis of DM2. Thus, morphometric and fiber type-based histological analysis of muscle biopsies may help differentiate between DM1 and DM2 and guide molecular analysis.

Pisani, V., Panico M, Terracciano, C., Bonifazi, E., Meola, G., Novelli, G., et al. (2008). Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. MUSCLE & NERVE, 38(5), 1405-1411 [10.1002/mus.21122].

Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2

NOVELLI, GIUSEPPE;BERNARDI, GIORGIO;MASSA, ROBERTO
2008

Abstract

The clinical features of myotonic dystrophy type 1 (DM1) and type 2 (DM2) may present striking similarity, whereas, in some cases, the DM2 phenotype may be so mild that the diagnosis may be missed. Therefore, the identification of disease-specific histopathological patterns for DM1 and DM2 may help clinicians to correctly address genetic studies. We performed a comparative morphological and morphometric analysis on muscle biopsies from 10 DIM 1 and 11 DM2 patients, comparing type 1 and type 2 fibers as to: fiber type predominance, transverse diameter, atrophy and hypertrophy factors, and prevalence of central nuclei. In DM1 cases we observed preferential type 1 fiber atrophy and a higher prevalence of central nucleation among type 1 fibers in all cases. In DM2 muscle biopsies, high rates of atrophic and hypertrophic type 2 fibers were observed in most cases, and preferential central nucleation in type 2 fibers was present in all cases. As opposed to DM1, in which type 1 fibers display most of the histological changes, preferential atrophy and hypertrophy of type 2 fibers may be considered as markers of DM2. A higher prevalence of central nuclei among hypertrophic type 2 fibers has a predictive value for the diagnosis of DM2. Thus, morphometric and fiber type-based histological analysis of muscle biopsies may help differentiate between DM1 and DM2 and guide molecular analysis.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/03 - Genetica Medica
Settore MED/26 - Neurologia
eng
Con Impact Factor ISI
Central nuclei; DM1; DM2; Muscle biopsy; Myotonic dystrophy
Pisani, V., Panico M, Terracciano, C., Bonifazi, E., Meola, G., Novelli, G., et al. (2008). Preferential central nucleation of type 2 myofibers is an invariable feature of myotonic dystrophy type 2. MUSCLE & NERVE, 38(5), 1405-1411 [10.1002/mus.21122].
Pisani, V; Panico, M; Terracciano, C; Bonifazi, E; Meola, G; Novelli, G; Bernardi, G; Angelini, C; Massa, R
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2108/30249
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