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Occupational Therapy and Duchenne Muscular Dystrophy
By: Kate Stone , Claire TestereBook Publisher: John Wiley & Sons
Imprint: John Wiley & Sons, Ltd.
Format: Adobe Encrypted (DRM)
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This is a practical guide for Occupational Therapists and others who provide services to people who have Duchenne muscular dystrophy. The goal of the book is to deepen the readers understanding of the support that occupational therapists can offer to families who are affected by this condition. Written by experienced occupational therapists with a special interest in Duchenne muscular dystrophy. The book will provide information and support to therapists who may be working in isolation, or who rarely work with this client group. It is for the experienced therapist as well as the student. Each chapter of this book gives a clear and comprehensive description of different aspects of occupational therapy assessments and interventions.
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| Title of eBook: Occupational Therapy and Duchenne Muscular Dystrophy | |
| Release Date: 12-05-2007 | |
| Publisher: John Wiley & Sons, Ltd. |
This eBook download is available in the following formats:
| Parent title | Occupational Therapy and Duchenne... |
|---|---|
| Encrypted (DRM) | Yes |
| SKU | 9780470510407 |
| File size | 1342 |
| Security | n/a |
| Printing | Not allowed |
| Copying | Not allowed |
| Read aloud | No Sys requirements Download reader |
| Devices | Samsung Tablet, Apple Ipad & Iphone, Barnes & Noble Nook, Kobo eReader, Aluratek Libre, Iliad, Nokia, Blackberry, Hanlin |
| Note | Excellent navigation features are available via Adobe such as bookmarks and a quick access table of contents. Text search is easily accessible. An Adobe DRM-protected file is different than a pdf file in that it uses Adobe DRM (Digital Rights Management) technology, which authors and publishers use to protect their content from illegal online distribution and to set certain privileges such as restrictions on copying and printing. |
Occupational Therapy and Duchenne Muscular Dystrophy
Chapter One
Duchenne Muscular Dystrophy: A Medical Overview
ALEX HOWARTH
Duchenne muscular dystrophy is the most common and usually most severe form of muscular dystrophy (Kapsa et al., 2003). It is named after Dr Duchenne de Boulogne - a mid-nineteenth-century French physician, who was one of the first people to study and document some of the muscular dystrophies.
Duchenne muscular dystrophy is an X-linked recessive muscle-wasting disorder, involving progressive muscle weakness which normally becomes evident before the age of five years in an affected boy. A defective gene on the X chromosome (at Xp21 site) leads to a deficiency in dystrophin - a rod-shaped cytoskeletal protein which normally maintains the integrity of the muscle cell wall. Where dystrophin is deficient, there is an influx of calcium ions, a breakdown of the calcium calmodulin complex and an excess of free radicals. These changes lead eventually to irreversible destruction of the muscle cells. Dystrophin is also found in the brain and its deficiency is associated with cognitive impairment to a varying degree (Anderson et al., 2002; Leet et al., 2002).
In X-linked recessive inheritance, it is generally the males that are affected because the mutated allele on the X chromosome is not balanced by a normal allele, as it is in the case of females (males have X and Y chromosomes, whereas females have two X chromosomes). In approximately half to two-thirds of all cases of Duchenne muscular dystrophy, the mother carries the defective gene. In these cases, the female relatives of the carrier mother should be offered genetic counselling. The remaining cases
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