Clinical course of motor skills, muscle strength, and respiratory function in pediatric subjects with Duchenne muscular dystrophy
A case series
Abstract
Objective: To describe the clinical course of muscle strength, motor skills, and respiratory function of four pediatric patients with Duchenne muscular dystrophy (DMD).
Materials and method: An observational, descriptive, retrospective case-series study was conducted. We recorded the data of pediatric patients with DMD, admitted for examination and/or treatment to the physical therapy unit of Hospital Sor María Ludovica, in La Plata, between April 2015 and January 2019. Patients with complete assessment were included in the study. The values of the peak cough flow test, 10-m walk test, spirometry, muscle strength, and supine-to-stand time were analyzed.
Results: The global mean of muscle strength, walking speed, and supine-to-stand time indicated a decreased performance, except for one patient, who showed improvement. Forced vital capacity (FVC) and peak cough flow values, theoretical and absolute, were higher in two patients. One subject showed a premature decrease in all variables. Absolute FVC values increased, while theoretical FVC values decreased in the eldest patient.
Conclusion: This study described the clinical course of four pediatric patients with DMD. Both muscle strength and motor skills decreased. The values of the respiratory tests varied as expected for the age.
References
Sussman M. Duchenne muscular dystrophy. Am J Orthop Surg. 2002;10(2):138-151.
Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1(1):19- 29.
Doglio L, Pavan E, Pernigotti I, Petralia P, Frigo C, Minetti C. Early signs of gait deviation in Duchenne muscular dystrophy. Eur J Phys Rehabil Med. 2011;47(4):587-594.
Bartels B, Pangalila RF, Bergen MP, Cobben NA, Stam HJ, Roebroeck ME. Upper limb function in adults with Duchenne muscular dystrophy. J Rehabil Med. 2011;43(9):770-775.
Govoni A, Magri F, Brajkovic S, Zanetta C, Faravelli I, Corti S, et al. Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy. Cell Mol Life Sci. 2013;70(23):4585-4602.
Bushby K, Connor E. Clinical outcome measures for trials in Duchenne muscular dystrophy: report from International Working Group meetings. Clin Investig. 2011;1(9):1217-1235.
Beenakker EA, Maurits NM, Fock JM, Brouwer OF, van der Hoeven JH. Functional ability and muscle force in healthy children and ambulant Duchenne muscular dystrophy patients. Eur J Paediatr Neurol. 2005;9(6):387-393.
Bahrami F, Dehkordi SN, Dadgoo M. Inter and intra rater reliability of the 10 meter walk test in the community dweller adults with spastic cerebral palsy. Iran J Child Neurol. 2017;11(1):57-64.
Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management. Lancet Neurol. 2018;17(3):251-267.
Mayhew JE, Florence JM, Mayhew TP, Henricson EK, Leshner RT, McCarter RJ, et al. CINRG Investigators. Reliable surrogate outcome measures in multicenter clinical trials of Duchenne muscular dystrophy. Muscle Nerve, 2007;35(1):36-42.
Finder JD, Birnkrant D, Carl J, Farber HJ, Gozal D, Iannaccone ST, et al. Respiratory care of the patient with Duchenne muscular dystrophy: ATS consensus statement. Am J Respir Crit Care Med. 2004;170(4):456-465
Panitch HB. The pathophysiology of respiratory impairment in pediatric neuromuscular diseases. Pediatrics. 2009;123(4):215-218.
Tangsrud SE, Petersen IL, Carlsen KL, Carlsen KH. Lung function in children with Duchenne’s muscular dystrophy. Respir Med X. 2001;95(11):898-903.
Mayer OH, Finkel RS, Rummey C, Benton MJ, Glanzman AM, Flickinger J, et al. Characterization of pulmonary function in Duchenne muscular dystrophy. Pediatr Pulmonol. 2015;50(5), 487-494.
Suárez AA, Pessolano FA, Monteiro SG, Ferreyra G, Capria ME, Mesa L, et al. Peak flow and peak cough flow in the evaluation of expiratory muscle weakness and bulbar impairment in patients with neuromuscular disease. Am J Phys Med Rehabil. 2002;81(7):506-511.
Osorio AN, Cantillo JM, Salas AC, Garrido MM, Padilla JV. Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de D–uchenne. Neurología. 2019;34(7):469-481.
Taboadela CH. Goniometría: una herramienta para la evaluación de las incapacidades laborales. 1ra ed. Buenos Aires: Asociart ART; 2007.
Pandya S, Florence JM, King WM, Robison JD, Oxman M, Province MA. Reliability of goniometric measurements in patients with Duchenne muscular Dystrophy. Phys Ther. 1985;65(9):1339-1342.
Hislop HJ, Avers D, Brown M. Daniels y Worthingham. Técnicas de balance muscular: técnicas de exploración manual y pruebas funcionales. 9na ed. Barcelona: Elsevier; 2014.
Florence JM, Pandya S, King WM, Robison JD, Baty J, Miller JP, et al. Intrarater reliability of manual muscle test (Medical Research Council scale) grades in Duchenne’s muscular dystrophy. Phys Ther. 1992;72(2):115-122.
Florence JM, Pandya S, King WM, Robison JD, Signore LC, Wentzell M, Province MA. Clinical trials in Duchenne dystrophy: standardization and reliability of evaluation procedures. Phys Ther. 1984;64(1):41-45.
Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D’Amico A, Lanzillotta V. Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: an observational study. PloS ONE. 2016;11(3): e0151445.
McDonald CM, Henricson EK, Abresch RT, Han JJ, Escolar DM, Florence JM, et al. The cooperative international neuromuscular research group Duchenne natural history study—a longitudinal investigation in the era of glucocorticoid therapy: design of protocol and the methods used. Muscle Nerve. 2013;48(1), 32-54.
Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018;17(4):347-361.
Wang CH, Bonnemann CG, Rutkowski A, Sejersen T, Bellini J, Battista V, et al. Consensus statement on standard of care for congenital muscular dystrophies. J Child Neurol. 2010;25(12):1559-1581.
Bushby KD, Hill A, Steele JG. Failure of early diagnosis in symptomatic Duchenne muscular dystrophy. Lancet. 1999;353(9152);557-558.
Mcdonald CM, Henricson EK, Abresch RT, Florence JM, Eagle M, Gappmaier, et al. The 6‐minute walk test and other endpoints in Duchenne muscular dystrophy: longitudinal natural history observations over 48 weeks from a multicenter study. Muscle Nerve. 2013;48(3):343-356.
