title: Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy.
abstract: BACKGROUND
  Duchenne muscular dystrophy (DMD) leads to progressive, generalized paresis, and to respiratory failure in the second decade of life. The assumption that severe physical disability precludes an acceptable quality of life is common, but has not been specifically evaluated in DMD.
  
  
  OBJECTIVE
  The purpose of this study was to investigate the quality of life in relation to physical disability, pulmonary function, and the need for assisted ventilation in DMD.
  
  
  METHODS
  In 35 patients with DMD, aged 8-33 yr, we assessed physical disability by a score ranging from 9 (no disability) to 80 (complete dependence on care and technical aids), pulmonary function, and health-related quality of life by Short-Form 36 of the medical outcome questionnaire.
  
  
  RESULTS
  All patients required a wheelchair and help for dressing and eating. Fourteen patients were on long-term noninvasive positive-pressure ventilation. In ventilated patients, mean +/- SD FVC was 12 +/- 10 % predicted, and the physical disability score was 65 +/- 7. Corresponding values in spontaneously breathing patients were 48 +/- 25 % predicted, and 51 +/- 7, respectively (p < 0.05 for both comparisons between groups). Short-Form 36 physical function scores were massively reduced in both groups (1 +/- 2, and 0 +/- 0, respectively), but vitality, role-emotional, social function, and mental health scores were nearly normal (67-98), and did not differ between groups.
  
  
  CONCLUSIONS
  Quality of life in DMD is not correlated with physical impairment nor the need for noninvasive positive-pressure ventilation. The surprisingly high quality of life experienced by these severely disabled patients should be taken into consideration when therapeutic decisions are made.
authors.affiliation: Pulmonary Division, Department of Internal Medicine, University Hospital of Zürich, Raemistrasse 100, CH-8091 Zürich, Switzerland.
authors.forename: Malcolm
authors.initials: M
authors.lastname: Kohler
authors.forename: Christian F
authors.initials: CF
authors.lastname: Clarenbach
authors.forename: Lukas
authors.initials: L
authors.lastname: Böni
authors.forename: Thomas
authors.initials: T
authors.lastname: Brack
authors.forename: Erich W
authors.initials: EW
authors.lastname: Russi
authors.forename: Konrad E
authors.initials: KE
authors.lastname: Bloch
mesh_terms: D000203:Activities of Daily Living / Q000523:psychology*; D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001294:Attitude to Health; D016022:Case-Control Studies; D002648:Child; D017281:Cost of Illness; D006233:Persons with Disabilities / Q000523:psychology*; D005541:Forced Expiratory Volume; D006801:Humans; D008297:Male; D008603:Mental Health; D020388:Muscular Dystrophy, Duchenne / Q000150:complications / Q000523:psychology*; D011175:Positive-Pressure Respiration / Q000706:statistics & numerical data; D011446:Prospective Studies; D011788:Quality of Life / Q000523:psychology*; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000523:psychology* / Q000628:therapy; D012656:Self-Help Devices / Q000706:statistics & numerical data; D018434:Sickness Impact Profile; D011795:Surveys and Questionnaires; D013557:Switzerland; D014797:Vital Capacity; D014910:Wheelchairs / Q000706:statistics & numerical data