Disability and survival in Duchenne muscular dystrophy

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 80, Issue 3, 2009, Pages 320-325

  Kohler, M ^a   Fclarenbach, C ^a   Bahler, C ^b   Brack, T ^a   Russi, E W ^a,c   Bloch, K E ^a,c  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b Mathilde Escher Heim   (Switzerland)

^c UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ASSISTED VENTILATION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DUCHENNE MUSCULAR DYSTROPHY; FORCED EXPIRATORY VOLUME; HUMAN; PATIENT MOBILITY; PHYSICAL DISABILITY; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY FUNCTION; SCHOOL CHILD; SCORING SYSTEM; SURVIVAL RATE; ARTIFICIAL VENTILATION; CLASSIFICATION; DAILY LIFE ACTIVITY; DISABILITY; KAPLAN MEIER METHOD; LONGITUDINAL STUDY; MALE; MORTALITY; NEUROLOGIC EXAMINATION; PHYSIOLOGY; PROSPECTIVE STUDY; SPIROMETRY; VITAL CAPACITY; WALKING DIFFICULTY; WHEELCHAIR;

ACTIVITIES OF DAILY LIVING; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DEPENDENT AMBULATION; DISABILITY EVALUATION; DISEASE PROGRESSION; HUMANS; KAPLAN-MEIERS ESTIMATE; LONGITUDINAL STUDIES; MALE; MUSCULAR DYSTROPHY, DUCHENNE; NEUROLOGIC EXAMINATION; PROSPECTIVE STUDIES; RESPIRATION, ARTIFICIAL; SPIROMETRY; VITAL CAPACITY; WHEELCHAIRS;

EID: 61549103435     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2007.141721     Document Type: Article

References (32)

1. Bushby KM. Genetic and clinical correlations of Xp21 muscular dystrophy. J Inher Metab Dis 1992;15:551-4.
2. Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell 1987;51:919-28.
3. Brooke MH, Fenichel GM, Griggs RC, et al. Duchenne muscular dystrophy: patterns of clinical progression and effects of supportive therapy. Neurology 1989;39:475-81.
4. Smith PE, Calverley PM, Edwards RH, et al. Practical problems in the respiratory care of patients with muscular dystrophy. N Engl J Med 1987;316:1197-205.
5. Kohler M, Clarenbach CF, Boni L, et al. Quality of life, physical disability, and respiratory impairment in Duchenne muscular dystrophy. Am J Hespir Crit Care Med 2005;172:1032-6.
6. Toussaint M, Steens M, Wasteels G, et al. Diurnal ventilation via mouthpiece: survival in end-stage Duchenne patients. Eur Hespir J 2006;28:549-55.
7. Hyde SA, Steffensen BF, Floytrup I, et al. Longitudinal data analysis: an application to construction of a natural history profile of Duchenne muscular dystrophy Neuromuscul Disord 2001 ;11:165-70.
8. Berard C, Payan C, Hodgkinson I, et al. A motor function measure scale for neuromuscular diseases. Construction and validation study. Neuromuscul Disord 2005;15:463-70.
9. Steffensen BF, Lyager S, Werge B, et al. Physical capacity in non-ambulatory people with Duchenne muscular dystrophy or spinal muscular atrophy: a longitudinal study Dev Med Child Neurol 2002;44:623-32.
10. Brooke MH, Griggs RC, Mendell JR, et al. Clinical trial in Duchenne dystrophy. 1. The design of the protocol. Muscle Nerve 1981;4:186-97.
11. Katz S, Ford AB, Moskowitz RW, et al. Studies of illness in the aged. The index of ADL: A standardized measure of biological and psychosocial function. JAMA 1963;185:914-19.
12. lannaccone ST, Browne RH, Samaha FJ, et al. Prospective study of spinal muscular atrophy before age 6 years. Pediatr Neurol 1994;9:187-93.
13. Appel V, Stewart SS, Smith G, et al. A rating scale for amyotrophic lateral sclerosis: description and preliminary experience. Ann Neurol 1987;22:328-33.
14. Zupan A. Assessment of the functional abilities of the upper limbs in patients with neuromuscular diseases. Disabil Hehabil 1996;18:69-75.
15. Steffensen BF, Hyde S, Lyager S, et al. Validity of the EK scale: a functional assessment of non-ambulatory individuals with Duchenne muscular dystrophy or spinal muscular atrophy. Physiother Res Int 2001 ;6:119-34.
16. Lin S, Liechti-Gallati S, Burgunder JM. New advances in muscular dystrophy: an up- to-date diagnostic plan. Swiss Med Weekly 1999;129:1141-51.
17. Miller MR, Hankinson J, Brusasco V, et al. Standardisation of spirometry. Eur Respir J 2005;26:319-38.
18. Zapletal A, Samanek M, Paul T. Lung function in children and adolescents: methods, reference values. Prog Respir Res 1987;22:113-17.
19. Quanjer PH, Tammeling GJ, Cotes JE, et al. Lung volumes and forced ventilatory flows: report working party standartization of lung function test. European Community for Steel and Coal. Eur Respir J Suppl 1993;16:5-40.
20. Bland JM, Altman DG. Statistical methods for assessing agreement between two methods of clinical measurement. Lancet 1986;1:307-10.
21. Sackley C, Disler PB, Turner-Stokes L, et al. Rehabilitation interventions for foot drop in neuromuscular disease. Cochrane Database Syst Rev 2007;2:CD003908.
22. Grange RW, Call JA. Recommendations to define exercise prescription for Duchenne muscular dystrophy. Exerc Sport Sci Rev 2007;35:12-17.
23. Manzur AY, Kuntzer T, Pike M, et al. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane Database Syst Rev 2004;2:CD003725.
24. Karpati G, Carpenter S, Prescott S. Small caliber skeletal muscle fibers do not suffer necrosis in mdx mouse dystrophy. Muscle Nerve 1988;11:795-803.
25. Boland B, Himpens B, Denef JF, et al. Site-dependent pathological differences in smooth muscles and skeletal muscles of the adult mdx mouse. Muscle Nerve 1995;18:649-57.
26. McDonald CM, Abresch RT, Carter GT, et al. Profiles of neuromuscular diseases Duchenne muscular dystrophy. Am J Phys Med Rehabil 1995;74(5 Suppl) :S70-92.
27. Phillips MF, Quinlivan RCM, Edwards RHT, et al. Changes in spirometry over time as a prognostic marker in patients with Duchenne muscular dystrophy. Am J Respir Crit Care Med 2001;164:2191-4.
28. Yasuma F, Konagaya M, Sakai M, et al. A new lease on life for patients with Duchenne muscular dystrophy in Japan. Am J Med 2004;117:363.
29. Eagle M, Baudouin SV, Chandler C, et al. Survival in Duchenne muscular dystrophy improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscul Disord 2002;12:926-9.
30. Eagle M, Bourke J, Bullock R, et al. Managing Duchenne muscular dystrophy-the additive effect of spinal surgery and home nocturnal ventilation in improving survival Neuromuscul Disord 2007;17:470- 5.
31. Bach JR. Management of neuromuscular ventilatory failure by 24 hour noninvasive intermittent positive pressure ventilation. Eur Respir Rev 1993;3:284-91.
32. Simonds AK, Muntoni F, Heather S, et al. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy. Thorax 1998;53:949-52.