Hostname: page-component-7479d7b7d-qs9v7 Total loading time: 0 Render date: 2024-07-12T12:02:54.546Z Has data issue: false hasContentIssue false

MRI of Tibialis Anterior Skeletal Muscle in Myotonic Dystrophy Type 1

Published online by Cambridge University Press:  02 December 2014

Chantal Coté
Affiliation:
Department of Radiology, CHUQ-C.H.U.L., Quebec
Bassem Hiba
Affiliation:
Faculté de médecine Lyon Nord, Université Lyon 1
Luc J. Hebert
Affiliation:
National Defense of Canada, CFHS HQ -HS Delivery, Ottawa, Canada
Christophe Vial
Affiliation:
Service EMG et Pathologies Neuromusculaires -Hôpital Neurologique Pierre Wertheimer, Lyon, France
Jean François Remec
Affiliation:
Service EMG et Pathologies Neuromusculaires -Hôpital Neurologique Pierre Wertheimer, Lyon, France
Marc Janier
Affiliation:
Faculté de médecine Lyon Nord, Université Lyon 1
Jack Puymirat*
Affiliation:
Unit of Human Genetics, CHUQ-C.H.U.L., Quebec
*
Centre hospitalier Université Laval (C.H.U.Q. pavillon C.H.U.L.), 2705 Blvd Laurier, Quebec, Quebec, G1V 4G2, Canada
Rights & Permissions [Opens in a new window]

Abstract:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.
Objective:

The aim of this study was to evaluate whether magnetic resonance imaging (MRI) can be used as a noninvasive approach to assessment of disease severity and muscle damage in Myotonic Dystrophy type 1 (DM1).

Methods:

The MRI findings in legs of 41 patients with DM1 were evaluated with respect to the tibialis anterior (TA) skeletal muscle impairment. Magnetic resonance imaging findings were compared with TA strength measurements obtained by quantitative manual testing, duration of the disease and with the length of the CTG repeats.

Results:

Muscle MRI abnormalities were observed in 80% of DM1 patients, ranging from edema-like abnormalities alone to severe atrophy / fatty replacement. Edema-like abnormalities seem to be an earlier MRI marker of the disease. Fatty infiltration/atrophy correlated with the TA muscle force (r = 0.95), the severity (P = 0.00001) of the disease but not with the duration of the disease (P = 0.3) or the length of the CTG repeats (P > 0.10), measured in peripheral leukocytes. Evaluation of other muscles of the legs revealed that the medial gastrocnemius and soleus muscles were the most frequently and severely affected muscles, while tibialis posterior muscles were relatively spared. Edema-like abnormalities are most frequently observed in the skeletal muscles of the anterior compartment.

Conclusion:

Muscle MRI is helpful to depict muscle abnormalities but does not seem to be a reliable indicator of skeletal muscle involvement in DM1 since the decrease in TAmuscle force is not correlated with MRI abnormalities in some patients.

Résumé:

Résumé:Objectif:

Le but de cette étude était d'évaluer si l'IRM peut être utilisée comme démarche non effractive dans l'évaluation de la sévérité de la maladie et du dommage musculaire dans la dystrophie myotonique de type 1 (DM1).

Méthodes:

Les observations à l'IRM faites au niveau des jambes de 41 patients atteints de DM1 ont été évaluées pour déterminer l'atteinte du jambier antérieur (JA). Ces observations ont été comparées aux mesures de la force du JA obtenues par évaluation manuelle quantitative, la durée de la maladie et la longueur des répétitions CTG.

Résultats:

Des anomalies ont été observées à l'IRM du JA chez 80% des patients atteints de DM1, allant d'anomalies ressemblant à de l'oedème seulement à de l'atrophie sévère ou une infiltration graisseuse. Les anomalies ressemblant à de l'oedème semblent constituer un marqueur plus précoce de la maladie. Il existait une corrélation entre l'infiltration graisseuse et l'atrophie et la force musculaire du JA (r = 0,95), la sévérité de la maladie (p = 0,00001), mais non avec la durée de celle-ci (p = 0,3) ou la longueur des répétitions CTG (p > 0,10) mesurée dans les leucocytes périphériques. L'évaluation d'autres muscles des jambes a montré que le grastrocnémien interne et le muscle soléaire étaient les muscles les plus fréquemment et les plus sévèrement atteints alors que les jambiers postérieurs étaient relativement indemnes. Des anomalies ressemblant à de l'oedème sont observées le plus souvent dans les muscles squelettiques de la loge antérieure.

Conclusion:

L'IRM du muscle aide à décrire les anomalies musculaires mais elle ne semble pas constituer un indicateur fiable de l'atteinte du muscle squelettique dans la DM1 étant donné que la diminution de la force du JA n'est pas corrélée aux anomalies observées à l'IRM chez certains patients.

Type
Original Article
Copyright
Copyright © Canadian Neurological Sciences Federation 2011

References

1 Harper, PS. Myotonic dystrophy- the clinical picture. In: Saunders, WB, editor. Myotonic dystrophy, third edition. London: 2001. p. 1746.Google Scholar
2 Fu, YH, Pizzuti, A, Fenwick, RG Jr, et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science. 1992;255(5049):12568.Google Scholar
3 Brook, JD, McCurrach, ME, Harley, HG, et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell. 1992;68(4):799808.CrossRefGoogle ScholarPubMed
4 Mahadevan, M, Tsifidis, C, Sabourin, L et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science. 1992;255(5049):12535.Google Scholar
5 Harley, HG, Brook, JD, Rundle, SA, et al. Expansion of unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992;355(6360):5456.CrossRefGoogle ScholarPubMed
6 Damian, MS, Bachmann, G, Herrmann, D, Dorndorf, W. Magnetic resonance imaging of muscle and brain in myotonic dystrophy. J Neurol. 1993;240(1):812.CrossRefGoogle ScholarPubMed
7 Castillo, J, Pumar, JM, Rodriguez, JR, et al. Magnetic resonance imaging of muscles in myotonic dystrophy. Eur J Radiol. 1993; 17(3):1414.Google Scholar
8 Bachmann, G, Damian, MS, Koch, M, Schilling, G, Fach, B, Stöppler, S. The clinical and genetic correlates of MRI findings in myotonic dystrophy. Neuroradiology. 1996;38(7):629–35.Google Scholar
9 Kornblum, C, Lutterbey, G, Bogdanow, M, et al. Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2. J Neurol. 2006;253(6):753–61.Google Scholar
10 Stramare, R, Beltrame, V, Dal Borgo, R, et al. MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med. 2010;115(4):585–99.CrossRefGoogle Scholar
11 Mathieu, J, Boivin, H, Meunier, D, Gaudreault, M, Begin, P. Assessment of a disease-specific muscular impairment rating scale in myotonic dystrophy. Neurol. 2001;56(3):336–40.CrossRefGoogle ScholarPubMed
12 Hébert, LJ, Remec, JF, Saulnier, J, Vial, C, Puymirat, J. The use of muscle strength assessed with handheld dynamometers as noninvasive biological marker in myotonic dystrophy type 1 patients: a multicentric study. BMC Musculoskelet Disord. 2010;18:1172.Google Scholar
13 Schedel, H, Reimers, CD, Vogl, T, Witt, TN. Muscle edema in MR imaging of neuromuscular diseases. Acta Radiol. 1995;36(3): 228–32.CrossRefGoogle ScholarPubMed
14 Fleckenstein, JL. MRI of neuromuscular disease: the basics. Semin Musculoskelet Radiol. 2000;4(4):393419.Google Scholar