Consenso brasileiro para distrofia muscular de Duchenne. Parte 2: reabilitação e cuidados sistêmicos

Araujo, Alexandra P. Q. C.; Nardes, Flavia; Fortes, Clarisse P. D. D.; Pereira, Jaqueline A.; Rebel, Marcos F.; Dias, Cristina M.; Barbosa, Rita de Cassia G. A.; Lopes, Mauro V. R.; Langer, Ana Lucia; Neves, Flavio R.; Reis, Edna Fátima

doi:10.1590/0004-282X20180062

Alexandra P. Q. C. Araujo

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brasil;

Flavia Nardes

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brasil;

Clarisse P. D. D. Fortes

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brasil;

Jaqueline A. Pereira

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Departamento de Fisioterapia, Rio de Janeiro RJ, Brasil;

Marcos F. Rebel

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Departamento de Fisioterapia, Rio de Janeiro RJ, Brasil;

Cristina M. Dias

Centro Universitário Augusto Motta, Curso de Fisioterapia, Rio de Janeiro RJ, Brasil;

Rita de Cassia G. A. Barbosa

Fundação Hospitalar do Estado de Minas Gerais, Hospital Infantil João Paulo II, Programa Vent-Lar, Belo Horizonte MG, Brasil;

Mauro V. R. Lopes

Fundação Hospitalar do Estado de Minas Gerais, Hospital Júlia Kubitschek, Programa Vent-Lar, Belo Horizonte MG, Brasil;

Ana Lucia Langer

Associação Paulista de Distrofia Muscular, São Paulo SP, Brasil;

Flavio R. Neves

Universidade Federal do Rio de Janeiro, Faculdade de Medicina, Rio de Janeiro RJ, Brasil;

Edna Fátima Reis

Associação Brasileira de Distrofia Muscular Viver Bem sem Limite, São Paulo SP, Brasil;

Associação de Assistência à Criança Deficiente, Setor de Doenças Neuromusculares, São Paulo SP, Brasil.

Correspondence: Alexandra P. Q. C. Araujo; Av. Américas, 700 / bloco 3 / sala 202; 22640-100 Rio de Janeiro RJ, Brasil; E-mail: dra.alexandra.prufer@hotmail.com

On behalf of the Brazilian Academy of Neurology, Neuromuscular Disease Department.

Conflict of interest: There is no conflict of interest to declare.

Study type	Level of evidence	Recommendation
Randomized clinical trials/systematic review	1	A
Cohort studies	2	B
Case control studies	3	B
Case series	4	C
Expert opinion	5	D

Topic	List
Rehabilitation	Motor
	Assessment: joint mobility, muscle strength, functional ability, timed tests, independence, scales;
	Intervention: reduce physical inactivity, preserve flexibility, maintain functional abilities, active and assistive resisted training with light weights.
	Respiratory
	Assessment: vital forced capacity, pulse oximetry, cough peak flow, nocturnal oximetry, capnography, inspiratory and expiratory maximal pressure;
	Intervention: air stacking, manual or mechanical assisted cough, nocturnal/continuous noninvasive/invasive ventilation, anti-pneumococcal and anti-influenza immunization.
	Orthopedic
	Assessment: clinical, radiological, Ca, P, alkaline phosphatase and 25-hydroxy vitamin D blood level, urinary Ca, Na and creatinine;
	Intervention: vitamin D, calcium, bisphosphonate, serial casting, surgical procedures.
	Psychosocial
	Assessment: clinical, neurodevelopmental scales, cognitive scales, neuropsychological tests, language and social skills, and autism-oriented evaluation;
	Intervention: information about the disease for family members and school, training social, cognitive and language skills, adaptations for accessibility, independence, sport and leisure, school intervention, in-house care and palliative care, psychotherapy, psychopharmacology, speech therapy, occupational therapy.
Systemic care	Cardiac
	Assessment: clinical, electrocardiogram, Doppler echocardiography, resonance imaging, holter;
	Intervention: prophylaxis, corticosteroids, angiotensin enzyme converting inhibitor, beta blocker, diuretics, eplerenone, angiotensin receptor inhibitor, poloxamer 188, idebenone, genetic therapy, stem cell.
	Cardiac care for carriers: assessment with electrocardiography, Doppler echocardiography, resonance imaging.
	Nutritional care: assess weight and stature, caloric intake, micronutrients and vitamins, swallowing ability.

Feature	Tool -limitation	Reference (Recommendation level)
Motor
Joint mobility	Goniometry – goniometer (range of motion)	¹¹11. 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 Jul;48(1):32-54. https://doi.org/10.1002/mus.23807 https://doi.org/10.1002/mus.23807... (B)
Muscle strength	Manual: Medical Research Council	¹¹11. 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 Jul;48(1):32-54. https://doi.org/10.1002/mus.23807 https://doi.org/10.1002/mus.23807... (B)
Muscle strength	Equipment – myometer (muscle strength)
Functional ability	Motor Function Measure for ambulant/non-ambulant patients
	equipment: mat, chair and adjustable height table, stopwatch, tennis ball, CD; space to walk 6m;	¹²12. Vuillerot C, Payan C, Girardot F, Fermanian J, Iwaz J, Bérard C et al. Responsiveness of the motor function measure in neuromuscular diseases. Arch Phys Med Rehabil. 2012 Dec;93(12):2251-6.e1. https://doi.org/10.1016/j.apmr.2012.05.025 https://doi.org/10.1016/j.apmr.2012.05.0... (B)
	North Star Ambulatory Assessment for ambulant patients only
	equipment: mat, 15cm high box step, chair, space to walk 10 m.	¹³13. De Sanctis R, Pane M, Sivo S, Ricotti V, Baranello G, Frosini S et al. Suitability of North Star Ambulatory assessment in young boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2015 Jan;25(1):14-8. https://doi.org/10.1016/j.nmd.2014.09.015 https://doi.org/10.1016/j.nmd.2014.09.01... (B)
	Performance of the upper limb scale for ambulant/non-ambulant patients
	equipment: chair and adjustable height table, metric weights (5g,10g,50g,100g, 200g, 500g and 1000g); 6 coins; plastic cup; Ziploc container; Osram dot-it push light button; 5 empty (light) and filled (heavy) cans; plastic tablecloth marked with circles).	¹⁴14. Mayhew A, Mazzone ES, Eagle M, Duong T, Ash M, Decostre V et al. Development of the performance of the upper limb module for Duchenne muscular dystrophy. Dev Med Child Neurol. 2013 Nov;55(11):1038-45. https://doi.org/10.1111/dmcn.12213 https://doi.org/10.1111/dmcn.12213... (B)
Timed tests	Time to get up from the floor	¹⁵15. Mazzone ES, Coratti G, Sormani MP, Messina S, Pane M, D’Amico A et al. Timed rise from floor as a predictor of disease progression in Duchenne muscular dystrophy: an observational study. PLoS One. 2016 Mar;11(3):e0151445. https://doi.org/10.1371/journal.pone.0151445 https://doi.org/10.1371/journal.pone.015... ^,¹⁶16. Pereira AC, Ribeiro MG, Araújo AP. Timed motor function tests capacity in healthy children. Arch Dis Child. 2016 Feb;101(2):147-51. https://doi.org/10.1136/archdischild-2014-307396 https://doi.org/10.1136/archdischild-201... ^,¹⁷17. Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36(22):1918-23. https://doi.org/10.3109/09638288.2014.883444 https://doi.org/10.3109/09638288.2014.88... (B)
	Time to walk 10 meters
	6 Minute walking test - space requirement of 25 m
	Time for steps up and down
	equipment: 4 standard stairs with handrails.
Independence scales	Barthel index	¹⁸18. Péntek M, Herczegfalvi A, Molnár MJ, Szonyi LP, Kosztolányi G, Pfliegler G et al. Disease burden of Duchenne muscular dystrophy patients and their caregivers. Ideggyogy Sz. 2016 Mar 30;69(5-6):183-93. (B)
Independence scales	Egen Klassifikation Scale	¹⁹19. Connolly AM, Malkus EC, Mendell JR, Flanigan KM, Miller JP, Schierbecker JR, et al. Outcome reliability in non-ambulatory boys/men with Duchenne muscular dystrophy. Muscle Nerve. 2015 Apr;51(4):522-32. https://doi.org/10.1002/mus.24346 https://doi.org/10.1002/mus.24346... (B)
Quality of life	Pediatric Quality of Life Inventory	²⁰20. Uzark K, King E, Cripe L, Spicer R, Sage J, Kinnett K et al. Health-related quality of life in children and adolescents with Duchenne muscular dystrophy. Pediatrics. 2012 Dec;130(6):e1559-66. https://doi.org/10.1542/peds.2012-0858 https://doi.org/10.1542/peds.2012-0858... (B)
Quality of life	International classification of functioning disability and health: children and youth version	¹⁷17. Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36(22):1918-23. https://doi.org/10.3109/09638288.2014.883444 https://doi.org/10.3109/09638288.2014.88... (B)
Respiratory
Hypoventilation (inspiratory muscle weakness)	Sniff nasal inspiratory pressure	³²32. Holick MF, Binkley NC, Bischoff-Ferrari HA, Gordon CM, Hanley DA, Heaney RP. Evaluation, treatment, and prevention of vitamin D deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2011 Jul;96(7):1911-30. https://doi.org/10.1210/jc.2011-0385 https://doi.org/10.1210/jc.2011-0385... (B)
	Forced vital capacity	²¹21. Khirani S, Ramirez A, Aubertin G, Boulé M, Chemouny C, Forin V et al. Respiratory muscle decline in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014 May;49(5):473-81. https://doi.org/10.1002/ppul.22847 https://doi.org/10.1002/ppul.22847... (C)
	Maximal Inspiratory/Expiratory Pressure
	Night oximetry	²²22. Bersanini C, Khirani S, Ramirez A, Lofaso F, Aubertin G, Beydon N, et al. Nocturnal hypoxaemia and hypercapnia in children with neuromuscular disorders. Eur Respir J. 2012 May;39(5):1206-12. https://doi.org/10.1183/09031936.00087511 https://doi.org/10.1183/09031936.0008751... (C)
	Capnography
Cough (expiratory muscle weakness)	Peak flow	²³23. LoMauro A, Romei M, D’Angelo MG, Aliverti A. Determinants of cough efficiency in Duchenne muscular dystrophy. Pediatr Pulmonol. 2014 Apr;49(4):357-65. https://doi.org/10.1002/ppul.22836 https://doi.org/10.1002/ppul.22836... (C)
Orthopedic	Imaging – panoramic X-ray, Dual energy x-ray absorptiometry scan	²⁴24. Buckner JL, Bowden SA, Mahan JD. Optimizing bone health in Duchenne muscular dystrophy. Int J Endocrinol. 2015;2015:928385. https://doi.org/10.1155/2015/928385PMID:26124831 https://doi.org/10.1155/2015/928385PMID:... (D)
Psychosocial
Cognitive neuropsychological assessment	Wechsler tests (WISC-III/WISC-IV, WPPSI-III or WPPSI-IV; and Kaufman	²⁵25. Sarrazin E, Hagen M, Schara U, Au K, Kaindl AM. Growth and psychomotor development of patients with Duchenne muscular dystrophy. Eur J Paediatr Neurol. 2014;18(1):38-44. https://doi.org/10.1016/j.ejpn.2013.08.008 https://doi.org/10.1016/j.ejpn.2013.08.0... ^,²⁶26. Banihani R, Smile S, Yoon G, Dupuis A, Mosleh M, Snider A, et al. Cognitive and Neurobehavioral Profile in Boys With Duchenne Muscular Dystrophy. J Child Neurol. 2015 Oct;30(11):1472-82. https://doi.org/10.1177/0883073815570154 https://doi.org/10.1177/0883073815570154... ^,²⁷27. Astrea G, Pecini C, Gasperini F, Brisca G, Scutifero M, Bruno C et al. Reading impairment in Duchenne muscular dystrophy: a pilot study to investigate similarities and differences with developmental dyslexia. Res Dev Disabil. 2015;45-46:168-77. https://doi.org/10.1016/j.ridd.2015.07.025 https://doi.org/10.1016/j.ridd.2015.07.0... ^,²⁸28. Milic Rasic V, Vojinovic D, Pesovic J, Mijalkovic G, Lukic V, Mladenovic J et al. Intellectual ability in the duchenne muscular dystrophy and dystrophin gene mutation location. Balkan J Med Genet. 2015 Apr;17(2):25-35. (B)
	Standford-Binet
	Raven’s Matrices
	Brunet-Lezine and Vineland-Doll battery tests
Medical cognitive assessment	Mental function examination, necessity for special education	²⁹29. Mirski KT, Crawford TO. Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis. J Pediatr. 2014;165(5):1008-10. (B)
Medical cognitive assessment	Mini-Mental State Examination

Medications, supplements and vaccines	Dose
Vitamin D	Prophylactic
	< 1 year: 400 IU/day
	> 1 year: 600 IU/day
	higher maintenance (1,000 IU/day) is necessary for DMD boys⁶²62. Saito T, Kawai M, Kimura E, Ogata K, Takahashi T, Kobayashi M et al. Study of Duchenne muscular dystrophy long-term survivors aged 40 years and older living in specialized institutions in Japan. Neuromuscul Disord. 2017 Feb;27(2):107-14. https://doi.org/10.1016/j.nmd.2016.11.012 https://doi.org/10.1016/j.nmd.2016.11.01...
	Therapeutic (deficiency of 25-OH-VitD: blood level < 12 ng/ml)
	< 1 year: 2,000 IU/day (12 weeks)
	1-12 years: 3,000-6,000 IU/day (12 weeks)
	> 12 years: 6,000 IU/day (12 weeks)
Calcium Carbonate (1g = 400 mg elemental calcium)	Vitamin D deficiency
Calcium Carbonate (1g = 400 mg elemental calcium)	40-80 mg/kg/day elemental calcium, oral, 8/8h (4 weeks)
Ferrous sulfate	Prophylactic
Ferrous sulfate	Full term breastfeeding infants: 1 mg/kg/day elemental ferrous from 6 until 24 months
Biphosphonates	Alendronate 0.08mg/kg/day or 70 mg (oral) every 2 weeks if prophylactic; every week if treatment
	Pamidronate 6-9mg/kg/year IV 3 to 4 months
	Zoledronic acid 0.1mg/kg/year IV 3 to 4 months
Pneumococcal Conjugate Vaccine (Pn10 or Pn13)	2, 4 and 12 months
Pneumococcal Polysaccharide Vaccine (Pn23)	1 dose after the age of 2 years
Anti-Influenza Vaccine	1 dose each year from 6 months of age on
Yellow Fever Vaccine	Contraindicated if the patient is using prednisone ≥ 20mg/day (or equivalent)
Angiotensin-converting enzyme inhibitors	Captopril
	6 years to adolescence 12.5 mg/dose, 1 to 2 times a day
	adults 25 to 50 mg, 2 to 3 times a day
	Enalapril 0.1 mg/Kg 1 to 2 times a day (maximum of 0.5 mg/Kg/day)
Beta blocker	Propranolol 2 to 4 mg/Kg/day, 2 to 4 times a day
	Atenolol 1 to 2 mg/Kg/day, once a day
	Carvedilol 0.1 to 1 mg/Kg/day, 1 to 2 times a day
	Metoprolol 20 mg/day

[1] Correspondence: Alexandra P. Q. C. Araujo; Av. Américas, 700 / bloco 3 / sala 202; 22640-100 Rio de Janeiro RJ, Brasil; E-mail: dra.alexandra.prufer@hotmail.com

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Consenso brasileiro para distrofia muscular de Duchenne. Parte 2: reabilitação e cuidados sistêmicos

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