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Open Access 01-12-2019 | Myotonic Dystrophy | Original Communication

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Authors: N. C. Voermans, R. C. van der Bilt, J. IJspeert, J. Y. Hogrel, M. Jeanpierre, A. Behin, P. Laforet, T. Stojkovic, B. G. van Engelen, G. W. Padberg, S. Sacconi, R. J. L. F. Lemmers, S. M. van der Maarel, B. Eymard, G. Bassez

Published in: Journal of Neurology | Issue 12/2019

Abstract

Objective

To study scapular winging or other forms of scapular dyskinesis (condition of alteration of the normal position and motion of the scapula) in myotonic dystrophy type 1 (DM1), which is generally considered to be a distal myopathy, we performed an observational cohort study.

Methods

We performed a prospective cohort study on the clinical features and progression over time of 33 patients with DM1 and pronounced, mostly asymmetric scapular winging or other forms of scapular dyskinesis. We also explored if scapular dyskinesis in DM1 has the same genetic background as in facioscapulohumeral muscular dystrophy type 1 (FSHD1).

Results

The cohort included patients with congenital (n = 3), infantile (n = 6) and adult-onset DM1 (n = 24). Scapular girdle examination showed moderate shoulder girdle weakness (mean MRC 3) and atrophy of trapezius, infraspinatus, and rhomboid major, seemingly similar as in FSHD1. Shoulder abduction and forward flexion were limited (50–70°). In five patients, scapular dyskinesis was the initial disease symptom; in the others it appeared 1–24 years after disease onset. Follow-up data were available in 29 patients (mean 8 years) and showed mild to severe increase of scapular dyskinesis over time. In only three patients, DM1 coexisted with a FSHD mutation. In all other patients, FSHD was genetically excluded. DM2 was genetically excluded in nine patients. The clinical features of the patients with both DM1 and FSHD1 mutations were similar to those with DM1 only.

Conclusion

Scapular dyskinesis can be considered to be part of DM1 in a small proportion of patients. In spite of the clinical overlap, FSHD can explain scapular dyskinesis only in a small minority. This study is expected to improve the recognition of shoulder girdle involvement in DM1, which will contribute to the management of these patients.

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Title: Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations
Authors: N. C. Voermans
R. C. van der Bilt
J. IJspeert
J. Y. Hogrel
M. Jeanpierre
A. Behin
P. Laforet
T. Stojkovic
B. G. van Engelen
G. W. Padberg
S. Sacconi
R. J. L. F. Lemmers
S. M. van der Maarel
B. Eymard
G. Bassez
Publication date: 01-12-2019
Publisher: Springer Berlin Heidelberg
Keywords: Myotonic Dystrophy
Myotonic Dystrophy
Published in: Journal of Neurology / Issue 12/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09494-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Abstract

Objective

Methods

Results

Conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objective

Methods

Results

Conclusion

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