Summary
In a study of eighty‐three families of patients with primary muscular dystrophy the index cases are either children or patients in whom muscular weakness was first apparent in childhood. 106 patients examined by the authors are differentiated clinically into: Childhood type (ninety‐six patients examined) represented in seventy‐eight families.
Two subgroups are distinguished:
(1) Severe group with fifty‐six families in which all the affected members are boys. The group is genetically homogeneous, a sex‐linked recessive or, less probably a sex‐limited dominant gene being responsible.
(2) Mild group with twenty‐two families; both sexes are represented amongst those affected. The group is genetically heterogeneous; sex‐linked recessive, autosomal recessive and dominant inheritance are probably all involved.
Reasons are given to support the view that at least two sex‐linked or sex‐limited genes are concerned in the transmission of the childhood type of dystrophy.
Adult types (ten patients examined) represented in five families.
Inheritance is probably dominant in three families and possibly autosomal recessive in two.
An Appendix containing summarized case histories is placed in the archives of the Galton Laboratory.
The authors wish to thank Prof. W. S. Craig and Dr C. O. Carter for their generous advice and encouragement, and the University of Leeds for contributing towards the expense involved in travelling to the homes of patients. In addition one of us (H.B.) was in receipt of a grant from the Eugenics Society 1953–55.
A special debt of gratitude is owed to Paediatricians in the Leeds Region who without exception, gave the authors every facility for studying patients under their care. It is a pleasure to acknowledge equally generous assistance from Dr Hugh Garland who allowed the authors to consult his hospital records.
We are obliged to the Leeds City Coroner for permission to consult reports of two autopsy examinations.
The majority of patients were traced with the unfailing co‐operation of the Medical Officers of the local authorities concerned, many of whom consulted with the authors and made available their school records. Permission to visit patients was invariably requested from the family doctor concerned and was in no case denied and the authors express their appreciation for the tolerance and kindness with which their efforts were rewarded by the parents and relations of children examined.
Finally, the authors wish to thank Prof. Penrose for his advice and Miss M. N. Karn for her interest and help in the preparation of this paper.
Effective management of cystic fibrosis (CF) depends on adherence to a daily multi-component regimen. Segregation policies have been reported to lead to a dramatic fall in the incidence of cross infection rates in specialist CF centres. Previously, peers provided a valuable source of information and support; segregation means that there is virtually no contact with other people with CF. In this context the Betterland CD-ROM was developed with the aim of improving knowledge and understanding and helping children and young people cope with time-consuming CF treatments (inhalation therapies and physiotherapy) and painful procedures by using filmed-model approaches. Betterland is an interactive computer game, designed in the style of a theme park. Patient and carer feedback has been positive and the CD-ROM has been incorporated into a nurse-led Moving to High School (MotHS) programme, as well as the patient education work of the CF multidisciplinary team, particularly clinical nurse specialists.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.