Muscle phenotype in patients with myotonic dystrophy type 1

Grete Andersen; Mette C Orngreen; Nicolai Preisler; Eskild Colding-Jørgensen; Torben Clausen; Morten Duno; Tina D Jeppesen; John Vissing

doi:10.1002/mus.23535

Muscle phenotype in patients with myotonic dystrophy type 1

Grete Andersen, Mette C Orngreen, Nicolai Preisler, Eskild Colding-Jørgensen, Torben Clausen, Morten Duno, Tina D Jeppesen, John Vissing

13 Citations (Scopus)

Abstract

Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na⁺-K⁺ pump content. Results: Muscle strength correlated with a decline in Na⁺-K⁺ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na⁺-K⁺ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2-6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1.

Original language	English
Journal	Muscle & Nerve
ISSN	0148-639X
DOIs	https://doi.org/10.1002/mus.23535
Publication status	Published - Mar 2013

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title = "Muscle phenotype in patients with myotonic dystrophy type 1",

abstract = "Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+-K+ pump content. Results: Muscle strength correlated with a decline in Na+-K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+-K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2-6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1.",

author = "Grete Andersen and Orngreen, {Mette C} and Nicolai Preisler and Eskild Colding-J{\o}rgensen and Torben Clausen and Morten Duno and Jeppesen, {Tina D} and John Vissing",

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year = "2013",

month = mar,

doi = "10.1002/mus.23535",

language = "English",

journal = "Muscle & Nerve",

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TY - JOUR

T1 - Muscle phenotype in patients with myotonic dystrophy type 1

AU - Andersen, Grete

AU - Orngreen, Mette C

AU - Preisler, Nicolai

AU - Colding-Jørgensen, Eskild

AU - Clausen, Torben

AU - Duno, Morten

AU - Jeppesen, Tina D

AU - Vissing, John

PY - 2013/3

Y1 - 2013/3

N2 - Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+-K+ pump content. Results: Muscle strength correlated with a decline in Na+-K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+-K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2-6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1.

AB - Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand-held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+-K+ pump content. Results: Muscle strength correlated with a decline in Na+-K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+-K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2-6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1.

U2 - 10.1002/mus.23535

DO - 10.1002/mus.23535

M3 - Journal article

C2 - 23169601

SN - 0148-639X

JO - Muscle & Nerve

JF - Muscle & Nerve

ER -

Muscle phenotype in patients with myotonic dystrophy type 1

Abstract

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