Leiden University Scholarly Publications

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... Show moreAim: 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. Show less

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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