Functional and orthopaedic aspects of dystrophinopathies

Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
C Boulay, G Finidori

Abstract

Although the clinical picture and the natural progression of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) differ, borderline forms exist. Classical orthopaedic treatment is based on self-rehabilitation (by the parents and the patient), physical therapy, posture alignment with orthotics, ergotherapy to set up technical aides, notably positioning in an electric wheelchair to provide more satisfactory autonomy. The functional aspect predominates over pure orthopaedics. Although surgical indications have evolved for the lower limbs, pelvic-spinal arthrodesis for treatment of scoliosis remains the reference treatment, but the methods have evolved since the advent of corticotherapy for DMD. Corticotherapy slows the progression of motor deficits, the age at which walking ability is lost is delayed (shifting from 10 years to 13-14 years depending on the studies), scoliosis progresses later, respiratory insufficiency is better controlled, and therefore survival is prolonged (between 20 and 40 years). However, although this functional aspect seems to respond better to the progress in overall treatment, it also results from a multidisciplinary approach to the disease. Nevertheless, assessment is required, not at a...Continue Reading

References

May 1, 1981·Muscle & Nerve·M H BrookeR J Pellegrino
May 15, 2007·Spine·Catherine Marty-PoumaratPhilippe Aegerter
May 21, 2009·Developmental Medicine and Child Neurology·Carole VuillerotCarole Berard
Dec 1, 2009·Lancet Neurology·Katharine BushbyUNKNOWN DMD Care Considerations Working Group
Dec 1, 2009·Lancet Neurology·Katharine BushbyUNKNOWN DMD Care Considerations Working Group
Aug 20, 2010·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Pierre-Yves JeannetAnisoara Paraschiv-Ionescu
Nov 3, 2010·Muscle & Nerve·Craig M McDonaldLangdon L Miller
Sep 17, 2011·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Véronique HumbertclaudeSylvie Tuffery-Giraud
Nov 28, 2012·European Spine Journal : Official Publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society·W M AlexanderP J Cundy
Dec 20, 2012·Journal of Neurology, Neurosurgery, and Psychiatry·Valeria RicottiUNKNOWN NorthStar Clinical Network
Apr 23, 2013·Archives of Physical Medicine and Rehabilitation·Capucine de LattreUNKNOWN MFM-20 Study Group

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Citations

Jul 27, 2017·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·M C ArtilheiroM C Voos

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