a practicalcmt: guide cmt: a practical guide Written and researched by Resonant Media Ltd CMT: A Practical Guide Book information Researched and written by Resonant (www.resonantmedia.co.uk), November 2014 © CMT United Kingdom 2006 Updated November 2014 ISBN 978-0-9533883-3-2 The rights of Resonant to be identified as the author of this work have been asserted in accordance with the Copyright, Designs and Patents Act, 1988. While every effort has been taken to make sure that the information in this book is accurate, neither the author nor CMT United Kingdom can be held responsible for incorrect entries. There are constant changes and developments in medicine and treatments available; we advise you to check with your health and social care professionals to make sure you receive the best treatment and care suitable for you. Please help us keep this leaflet up to date and tell us if there are any mistakes, changes or new information that you think should be included in future editions of this book. Photography and imagery Copyright for photography remains with: Diagrams of nerves (What is CMT?) – Muscular Dystrophy Association, USA Exercises and stretches (Stretching, exercise, and physiotherapy) – Gita Ramdharry Orthoses (Treating your CMT) – Paul Charlton Other diagrams and photos - CMT United Kingdom Published in Great Britain by CMT United Kingdom, 98 Broadway, Southbourne, Bournemouth, BH6 4EH email: [email protected] www.cmt.org.uk tel: 0800 6526316 First published as Charcot-Marie-Tooth Disease: A Practical Guide, 2000 All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic, mechanical, photocopying, recording or otherwise, without the prior permission of the publisher. 2 CMT: A Practical Guide Table of Contents Preface ....................................................................................................................... 9 Foreword .................................................................................................................. 11 Chapter 1: What is CMT? .......................................................................................... 13 What is CMT - the basics ................................................................................................... 14 What’s in a name? ............................................................................................................ 15 The symptoms of CMT ...................................................................................................... 16 What causes CMT? ............................................................................................................ 17 The different types of CMT........................................................................................................... 19 CMT – the axon and myelin sheath .............................................................................................. 20 Knowing your type – is it important? ........................................................................................... 21 The mechanics of CMT ...................................................................................................... 22 Muscle wasting and weakness ..................................................................................................... 22 Loss of sensation .......................................................................................................................... 24 Summary of problems due to muscle wasting/weakness and sensory loss ................................ 25 Diagnosis ........................................................................................................................... 26 Steps to a diagnosis ...................................................................................................................... 26 What should happen now? .......................................................................................................... 27 Reacting to your diagnosis ........................................................................................................... 28 Myths and facts ................................................................................................................. 31 CMT and other conditions ............................................................................................................ 31 What is affected in CMT? ............................................................................................................. 32 Other conditions closely related to CMT .......................................................................... 34 Hereditary Sensory Neuropathy (HSN)......................................................................................... 34 Distal Hereditary Motor Neuropathy (HMN) ............................................................................... 35 Hereditary Neuropathy with Liability to Pressure Palsy (HNPP) .................................................. 35 Treatment and management ....................................................................................................... 37 How common is HNPP? ................................................................................................................ 37 Chapter 2: Genes: what they mean for you ............................................................... 39 Genes: What they mean for you ...................................................................................... 40 3 CMT: A Practical Guide Passing on your genes and CMT .................................................................................................. 40 Inheritance patterns .................................................................................................................... 41 Summary of inheritance ............................................................................................................... 45 Classification of CMT, HSN and distal HMN ...................................................................... 46 Classification of CMT .................................................................................................................... 46 Demyelinating CMT (CMT1) ......................................................................................................... 46 Axonal CMT (CMT2) ..................................................................................................................... 47 X-Linked CMT ............................................................................................................................... 47 Classification of HSN .................................................................................................................... 48 Classification of distal HMN ......................................................................................................... 48 Genetic testing .................................................................................................................. 49 Where can you get advice? .......................................................................................................... 50 Planning a family: how developments in genetics can play a part .............................................. 51 Pre-implantation genetic diagnosis (PGD) ................................................................................... 51 Questions and answers ................................................................................................................ 52 Chapter 3: How to manage your CMT ...................................................................... 55 How to manage your CMT ................................................................................................ 56 What you can do .......................................................................................................................... 56 You and your GP ........................................................................................................................... 57 General health tips for CMT ......................................................................................................... 57 Getting the right information ........................................................................................... 59 Treating your CMT ............................................................................................................ 60 In a nutshell .................................................................................................................................. 61 Getting the right treatment ......................................................................................................... 62 Getting the most out of a consultation ........................................................................................ 64 CMT and medication .................................................................................................................... 65 Complementary and alternative treatments ............................................................................... 65 Surgery .............................................................................................................................. 66 Surgical techniques ...................................................................................................................... 68 Anaesthesia ....................................................................................................................... 70 Help