Muscular Dystrophy: The Facts

Front Cover
Oxford University Press, 2000 - Medical - 166 pages
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The muscular dystrophies are a group of genetic diseases that severely affect children and adults. For sufferers and their family, the illness presents enormous physical and psychological challenges. Written specifically for people with muscular dystrophy and their families, this new editionof Muscular dystrophy: the facts answers many of the questions asked about how and why it occurs, and how it will affect the life of a recently diagnosed child. Throughout, the different types of muscular dystrophy are described with a minimum of technical jargon. Questions relating to exercise,physiotherapy, surgery, and the emotional effects of the diseases are answered, and advice given on the problems of schooling and choice of career. Since publication of the 1st edition, the genes for almost all the different types of dystrophy have been identified, enabling prevention throughgenetic counselling, and relieving some of the worry for affected families. Drawn from his many years of experience treating patients, Professor Emery provides authoritative, yet compassionate advice for people living with this illness. From reviews of 1st edition 'A family visiting a geneticcounsellor readied with information from this book would be well versed in the scope of concerns that can arise as families live with MD. I applaud the effort to make this care package of information available to families.' The American Journal of Human Genetics
 

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Contents

Introduction
1
What is muscular dystrophy?
3
The meaning of muscular dystrophy
6
Muscle weakness
7
Types of muscle
9
Muscle structure
10
Cause of muscle weakness
12
Animal studies of dystrophy
14
The coping process
77
When there is a family history
80
The affected person
81
Psychosexual problems
82
Effects on the parents
83
Effects on unaffected siblings
85
Effects on the children of an affected parent
86
Bereavement
87

Some unanswered questions
15
Summary
16
Confirming the diagnosis
17
Blood tests
18
Electromyography
21
Muscle biopsy
22
Other investigations
25
Summary
26
Different types of muscular dystrophy
27
Duchenne muscular dystrophy
29
Becker muscular dystrophy
34
EmeryDreifuss muscular dystrophy
35
Limb girdle muscular dystrophy
37
Facioscapulohumeral muscular dystrophy
39
Distal muscular dystrophy
40
Oculopharyngeal muscular dystrophy
41
Congenital muscular dystrophies
42
Myotonic dystrophy
44
Other forms of dystrophy
46
Treatment
49
Promotion and maintenance of good health
50
Passive exercise and physiotherapy
51
Chronic lowfrequency electrical stimulation
52
Scoliosis
53
Prolonging walking
54
Aids for the disabled
56
Surgery
58
Fractures
60
Assisted ventilation
63
Heart problems
65
Prednisone
69
Gene therapy
70
Patients and therapeutic trials
72
Summary
74
Living with muscular dystrophy
75
Individual responses
76
Summary
88
Education and employment
91
Choice of subjects
92
Later years
93
More benign types of dystrophy
94
Career opportunities
95
Inheritance and genetic counselling
97
Modes of inheritance
98
Autosomal dominant inheritance
101
Risks in myotonic dystrophy
104
Autosomal recessive inheritance
105
Xlinked recessive inheritance
107
Carrier detection
109
Manifesting carriers
110
Why cases may not be familial
111
Genetic counselling
112
Timing of genetic counselling
113
Options available
114
Prenatal diagnosis
115
Pregnancy termination
117
Counselling for individuals
118
Summary
119
Professional and voluntary support
121
Specialist centres and units
122
Hospitalbased groups
123
Communitybased groups
124
Summary
125
The future
127
Living with muscular dystrophy
131
Further reading
135
Monographs on specific disorders
136
Books about the disease written by patients or their relatives
139
Muscular dystrophy associations and groups in various countries
141
Glossary of terms
151
Index
159
Copyright

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References to this book

Myotonic Dystrophy
Peter S. Harper
Limited preview - 2002

About the author (2000)

Professor Alan Emery, 2 Ingleside Upper West Terrace, Budleigh Salterton, Devon EX9 6NZ. 01395 445847 fax: 01395 443855

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