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Opstal, S.L.S.H.V.; Tak, R.O.; Pelsma, M.; Heuvel, F.M.A. van den; Duyvenvoorde, H.A. van; Cup, E.H.C.; ... ; Willemsen, M.A.A.P.
2022
Long-term outcomes for females with early-onset dystrophinopathy
Article / Letter to editor
open access
Aim: To study long-term disease course for females with early-onset dystrophinopa-thy, including common (female) symptoms, challenges in social participation, the need for care, and...
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Aim: To study long-term disease course for females with early-onset dystrophinopa-thy, including common (female) symptoms, challenges in social participation, the need for care, and current healthcare management to support guideline development.Method: Twelve females with early-onset dystrophinopathy were followed for a me-dian period of more than 17 years (range 1–36).Results: One patient died owing to end-stage cardiac failure. Cardiac abnormalities were observed in three of the remaining 11 participants. Respiratory function was reduced in seven of 10 participants. Fatigue, myalgia, lower back pain, and arthralgia were reported in more than six of the participants. Functional status varied from exercise intolerance to wheelchair dependency. Most or all of the 10 participants re-ported restrictions in participation in work (n = 10), household duties (n = 10), sports (n = 9), and education (n = 8). Only a few participants received followed-up pulmo-nary (n = 2) or rehabilitation (n = 3) care.Interpretation: Females with early-onset dystrophinopathy experience a wide range of impairments, comorbidities, limitations in activities, and restrictions in social participation. The whole spectrum should be acknowledged in the healthcare set-ting. Neuromuscular and cardiac follow-up are indispensable. Additional respira-tory assessment and rehabilitation care are expected to improve health status and support daily activities and participation.This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.© 2022 The Authors. Developmental Medicine & Child Neurology published by John Wiley & Sons Ltd on behalf of Mac Keith Press.Abbreviations: DMD, Duchenne muscular dystrophy; USER- P, Utrecht Scale for Evaluation of Rehabilitation- Participation..This original article is commented on by Politano on pages 1001–1002 of this issue.
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Snoeck, M.; Engelen, B.G.M. van; Kusters, B.; Lammens, M.; Meijer, R.; Molenaar, J.P.F.; ... ; Kamsteeg, E.J.
2015
RYR1-related myopathies: a wide spectrum of phenotypes throughout life
Article / Letter to editor
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Markhorst, J.M.; Stunnenberg, B.C.; Ginjaar, I.B.; Drost, G.; Erasmus, C.E.; Sie, L.T.L.
2014
Clinical Experience With Long-Term Acetazolamide Treatment in Children With Nondystrophic Myotonias: A Three-Case Report
Article / Letter to editor
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