Respiratory Complications of the Muscular Dystrophies

ABSTRACT

Pulmonary complications including chest infections, atelectasis, pulmonary hypoplasia and ventilatory failure are the leading cause of death in the muscular dystrophies and atrophies. Ventilatory insufficiency is virtually inevitable in Duchenne muscular dystrophy and type 1 spinal muscular atrophy (SMA), but more variable in limb-girdle, congenital, and facioscapulohumeral muscular dystrophy. A cardiomyopathy may complicate Duchenne, Becker, and Emery-Dreifuss muscular dystrophies. Most patients respond well to ventilatory support with reduced pulmonary morbidity and extended survival. Careful monitoring and anticipation of complications are important so that ventilatory assistance can be started in a timely fashion.

KEYWORDS

Duchenne muscular dystrophy - spinal muscular atrophy - noninvasive ventilation

REFERENCES

• 1 Rideau Y, Gatin G, Bach J, Gines G. Prolongation of life in Duchenne's muscular dystrophy.  Acta Neurol . 1983;  5 118-124
• 2 Dubowitz V. The Muscular dystrophies. In: Dubowitz V, ed. Muscle Disorders in Childhood 2nd ed. London: WBSaunders 1995: 34-133
• 3 Baydur A, Gilgoff I, Prentice W, Carlson M, Fischer D A. Decline in respiratory function and experience with long-term assisted ventilation in advanced Duchenne's muscular dystrophy.  Chest . 1990;  97 884-889
• 4 Khan Y, Heckmatt J Z. Obstructive apnoeas in Duchenne muscular dystrophy.  Thorax . 1994;  49 157-161
• 5 Phillips M F, Smith P E, Carroll N, Edwards R H, Calverley P M. Nocturnal oxygenation and prognosis in Duchenne muscular dystrophy.  Am J Respir Crit Care Med . 1999;  160 198-202
• 6 Barbe F, Quera-Salva M A, McCann C. Sleep-related respiratory disturbances in patients with Duchenne muscular dystrophy.  Eur Respir J . 1994;  7 1403-1408
• 7 Hukins C A, Hillman D R. Daytime predictors of sleep hypoventilation in Duchenne muscular dystrophy.  Am J Respir Crit Care Med . 2000;  161 166-170
• 8 Vianello A, Bevilacqua M, Salvador V, Cardaioli C, Vincenti E. Long-term nasal intermittent positive pressure ventilation in advanced Duchenne's muscular dystrophy.  Chest . 1994;  105 445-448
• 9 Sortor S. Pulmonary issues in quadriplegia.  Eur Respir Rev . 1992;  2 10:330-334
• 10 Bach J R. Mechanical insufflation-exsufflation: comparison of peak expiratory flows with manually assisted and unassisted coughing techniques.  Chest . 1993;  104 1553-1562
• 11 Bach J R, Rajaraman R, Ballanger F. Neuromuscular ventilator insufficiency: effect of home mechanical ventilation v oxygen therapy on pneumonia and hopitalization rates.  Am J Phys Med Rehabil . 1998;  77 8-19
• 12 Simonds A K, Muntoni F, Heather S, Fielding S. Impact of nasal ventilation on survival in hypercapnic Duchenne muscular dystrophy.  Thorax . 1998;  53 949-952
• 13 Nigro G, Coni L I, Politano L, Bain R JI. The incidence and evolution of cardiomyopthy in Duchenne muscular dystrophy.  Int J Cardiol . 1990;  26 271-277
• 14 Steare S E, Dubowitz V, Benatar A. Subclincal cardiomyopathy in Becker muscular dystrophy.  Brit Heart Journal . 1992;  68 304-308
• 15 Casazza F, Brambilla G, Salvato A. Cardiac transplantation in Becker muscular dystrophy.  J Neurol . 1988;  235 496-498
• 16 Simonds A K, Ward S, Heather S, Bush A B, Muntoni F. Outcome of paediatric domiciliary mask ventilation in neuromuscular and skeletal disease.  Eur Respir J . 2000;  16 476-481
• 17 Gigliotti F, Pizzi A, Duranti R, Gorini M, Iandelli I, Scano G. Control of breathing in patients with limb-girdle dystrophy: a controlled study.  Thorax . 1995;  50 962-968
• 18 Harper P S. Myotonic dystrophy. In: Major Problems in Neurology Vol 21. 2nd ed. London: WB Saunders; 1989
• 19 Leger P, Jennequin J, Gerard M. Home positive pressure ventilation via nasal mask for patients with neuromuscular weakness or restrictive lung or chest wall deformities.  Respiratory Care . 1989;  34 73-77
• 20 Barois A, Estournet-Mathiaud B. Spinal muscular atrophy: respiratory management as a function of clinical aspects. In: Robert D, Make BJ, Leger P, et al, eds. Home Mechanical Ventilation 1st ed. Paris: Arnette Blackwell 1995: 261-275
• 21 Birnkrant D J, Pope J F, Martin J E, Repucci A H, Eiben R M. Treatment of type 1 spinal muscular atrophy with noninvasive ventilation and gastrostomy feeding.  Pediatr Neurol . 1998;  18 407-410
• 22 Bach J R, Niranjan V, Weaver B. Spinal muscular atrophy type 1: a noninvasive respiratory management approach.  Chest . 2000;  117 1100-1105
• 23 Sakakihara Y, Kubota M, Kim S, Oka A. Long-term ventilator support in patients with Werdnig-Hoffman disease.  Pediatrics International . 2000;  42 359-363
• 24 Barach A L, Beck G J. Exsufflation with negative pressure: physiologic and clinical studies in spoliomyelitis, bronchial asthma, pulmonary emphysema and bronchiectsis.  Arch Intern Med . 1954;  93 825-841
• 25 Chatwin M, Ross E, Hart N. A comparison of the effect of mechanical insufflation-exsufflation, noninvasive ventilation, and physiotherapy assistance on peak cough flow in neuromuscular disease [abstract] (in press).  Thorax 2002.
• 26 Wanke T, Toifl K, Merkle M, Formanek D, Lahrmann H, Zwick H. Inspiratory muscle training in patients with Duchenne muscular dystrophy.  Chest . 1994;  105 475-482
• 27 Leatherman K D, Dickson R A. Neuromuscular deformities. In: Leatherman KD, Dickson RA, eds. The Management of Spinal Deformities 1st ed. London: Wright 1988: 211-234
• 28 Norregaard O, Jensen T, Vindelev P. Effects of inspiratory pressure support on oxygenation and central haemodynamics in the normal heart during the postoperative period.  Respir Med . 1996;  90 415-417
• 29 Raphael J-C, Chevret S, Chastang C, Bouvet F. Randomised trial of preventive nasal ventilation in Duchenne muscular dystrophy.  Lancet . 1994;  343 1600-1604
• 30 Fauroux B, Sardet A, Foret D. Home treatment for chronic respiratory failure in children: a prospective study.  Eur Respir J . 1995;  8 2062-2066