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Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care

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

ABSTRACT

Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) have occurred since the publication of international guidelines for DMD care in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination of the Delphi technique with a systematic review of studies from 2010 to 2016 was employed to classify evidence levels and grade of recommendations for the guideline. Our recommendations were divided in two parts. Guideline methodology and overall disease concept descriptions are found in Part 1. Here we present Part 2, where we provide the results and recommendations on rehabilitation and systemic care for DMD.

muscular dystrophy, Duchenne; consensus; physical therapy modalities; exercise; rehabilitation; noninvasive ventilation; cognition; quality of life; orthotic devices; muscle stretching exercises; tracheostomy; vital capacity; respiratory function tests; cardiomyopathies; heart failure; nutrition disorders; nutritional support; intellectual disability

RESUMO

Avanços significativos na compreensão e no manejo da Distrofia Muscular de Duchenne (DMD) ocorreram desde a publicação de diretrizes internacionais para o cuidado destes pacientes em 2010. Nosso objetivo foi elaborar um consenso nacional baseado em evidências para o cuidado multidisciplinar dos pacientes com DMD no Brasil. Utilizamos uma combinação da técnica de Delphi com uma revisão sistemática da literatura de 2010 a 2016 para classificarmos os níveis de evidência e graus de recomendação para o consenso. Nossas recomendações foram divididas em duas partes. A metodologia utilizada na elaboração do consenso e conceitos gerais da doença encontram-se na parte 1. Neste artigo fornecemos os resultados e recomendações sobre reabilitação e cuidados sistêmicos para DMD.

distrofia muscular de Duchenne; consenso; modalidades de fisioterapia; exercício; reabilitação; ventilação não invasiva; cognição; qualidade de vida; aparelhos ortopédicos; exercícios de alongamento muscular; traqueostomia; capacidade vital; testes de função respiratória; cardiomiopatias; insuficiência cardíaca; transtornos nutricionais; apoio nutricional; deficiência intellectual

Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy, leads to severe disability and early death in the late teenage years if untreated. An X-linked degenerative disease, DMD affects approximately 1 in 3,500 to 5,000 live male births11. Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1(1):19-29. https://doi.org/10.1016/0960-8966(91)90039-U
https://doi.org/10.1016/0960-8966(91)900...
. The condition is characterized by progressive loss of muscle strength, with some boys presenting with delayed motor milestones with or without intellectual disability. Diagnosis is generally suspected by the age of five years when physical ability divergent from their peers becomes evident. Females are usually asymptomatic, but some female carriers present with milder forms of the disease, generally associated with chromosomal rearrangements22. Quan F, Janas J, Toth-Fejel S, Johnson DB, Wolford JK, Popovich BW. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet. 1997 Jan;60(1):160-5.. Duchenne muscular dystrophy occurs as a result of mutations in DMD (locus Xp21.2), which codes for the protein dystrophin33. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec;51(6):919-28. https://doi.org/10.1016/0092-8674(87)90579-4
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. Mutations that lead to dystrophin absence result in irreversible degeneration of the muscle tissue, accounting for the DMD phenotype11. Emery AE. Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord. 1991;1(1):19-29. https://doi.org/10.1016/0960-8966(91)90039-U
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,33. Hoffman EP, Brown RH Jr, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec;51(6):919-28. https://doi.org/10.1016/0092-8674(87)90579-4
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. Other mutations that lead to partial dystrophin expression are less severe, resulting in milder dystrophinopathy phenotypes, known as Becker muscular dystrophy44. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
https://doi.org/10.1016/S1474-4422(09)70...
.

International guidelines for DMD care were published in 2010, with recommendations for DMD management, assessment and intervention44. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
https://doi.org/10.1016/S1474-4422(09)70...
,55. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010 Feb;9(2):177-89. https://doi.org/10.1016/S1474-4422(09)70272-8
https://doi.org/10.1016/S1474-4422(09)70...
. These guidelines were generated by an international group of experts, mainly from Europe and the United States of America, based on literature reviews and expert opinion. They divided their work into the following topics: diagnosis, rehabilitation, orthopedic, psychosocial, cardiac, pulmonary, gastrointestinal/nutritional and steroid management44. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
https://doi.org/10.1016/S1474-4422(09)70...
,55. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010 Feb;9(2):177-89. https://doi.org/10.1016/S1474-4422(09)70272-8
https://doi.org/10.1016/S1474-4422(09)70...
. However, because of significant advances in the understanding and management of DMD since then, an update review of previous guidelines has become of paramount importance. Improvements in general care, steroid treatment, noninvasive ventilatory support, cardiomyopathy and scoliosis management may significantly change the course of DMD. Therefore, a review of previous guidelines is necessary, as well as highlighting some new specific guidelines that are underway or have recently been published66. Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb;86(5):465-72. https://doi.org/10.1212/WNL.0000000000002337
https://doi.org/10.1212/WNL.000000000000...
,77. Topaloglu H, Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Jul;87(2):238. https://doi.org/10.1212/01.wnl.0000489553.99227.18
https://doi.org/10.1212/01.wnl.000048955...
.

Evidence-based practice has been heralded as the most appropriate way of ensuring that patients receive the most effective care possible.

Evidence-based practice involves much more than locating, analyzing, and appraising the best evidence available on the effectiveness of an intervention. Levels of evidence are based on study design and the methodological quality of individual studies. It is also important to make a judgment about the relevance and applicability of the evidence to the targeted patient group for the guideline, the consistency of the evidence, and the likelihood of clinical impact with the intervention. Finally, a link has to be made between the strength of the available evidence and the grade of the recommendation88. Hadorn DC, Baker D, Hodges JS, Hicks N. Rating the quality of evidence for clinical practice guidelines. J Clin Epidemiol. 1996 Jul;49(7):749-54. https://doi.org/10.1016/0895-4356(96)00019-4
https://doi.org/10.1016/0895-4356(96)000...
.

The need to review guidelines published in 201044. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
https://doi.org/10.1016/S1474-4422(09)70...
,55. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010 Feb;9(2):177-89. https://doi.org/10.1016/S1474-4422(09)70272-8
https://doi.org/10.1016/S1474-4422(09)70...
in the light of the more recent publications, with a methodology that minimizes expert opinion, and with a focus on regional feasibility, was the motivation for the present work. Our objective was to produce an evidence-based consensus statement on the main management issues in DMD to be used as a guide for health practitioners following these patients.

Part 2 deals with rehabilitation and systemic care. For each DMD stage, priorities are presented. Measures for prevention of complications setting in early are considered priorities. Should a patient begin being followed at a later point in the disease, with some of the interventions not yet having been started, these might be included in a later stage.

METHODS

For detailed methodology, see Part 1 in the August 2017 issue of Arquivos de Neuro-Psiquiatria99. Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França Junior MC et al. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. https://doi.org/10.1590/0004-282X20170112.
https://doi.org/10.1590/0004-282X2017011...
.

The working groups began with a literature review from 2010 to 2016. A combination of evidence based level and recommendation (Table 1) and the Delphi technique1010. Hsu CC, Sandford BA. The Delphi technique: making sense of consensus. Pract Assess Res Eval. 2007;12(10):1-8. were used to produce this consensus.

Table 1
Level of evidence and corresponding recommendation grade.

RESULTS

In Part 2, we focus on rehabilitation and systemic care.

As a result of the open question to the members of the working groups (based on the literature review and experience following DMD patients, and assessments and interventions) a list of items was generated (Table 2).

Table 2
List of items received from each working group after the first round of the Delphi Technique.

Each of those items was then subjected to careful evaluation according to the published material evidence and its feasibility in Brazil. Further discussion, in a joint meeting of all members of divergent opinions, resulted in the following consensus, organized here according the chronological DMD stages.

Stage 1: Presymptomatic (from birth up to three years of age)

The main goal at this stage is to help maintain as normal growth and development as possible.

Rehabilitation

Motor assessment and intervention starts with the suspicion of the diagnosis and should occur regularly. Original new articles on the topic of motor intervention have been few since the publication by Bushby et al.55. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010 Feb;9(2):177-89. https://doi.org/10.1016/S1474-4422(09)70272-8
https://doi.org/10.1016/S1474-4422(09)70...
.

Assessment

The assessment tools and recommendation levels are found in Table 3. Some of those are for routine use and others are for use in research. The aim of testing is to monitor disease progression, predict functional losses or identify the need for further interventions. Literature is scarce in indicating the frequency required for these assessments; nevertheless, it is reasonable to do so once or twice a year in routine follow-up.

Table 3
Assessment tools for DMD follow-up.

A great number of different motor functional scales have been published, but many are applied in research rather than in regular clinical practice, either because they are time consuming or require specific equipment.

Monitor neurodevelopmental skills according to age.

Interventions

Disease information for family members is crucial from the moment of the diagnosis, and emotional support should be considered.

The prevention of some respiratory infections with active immunization (Table 4) should not be forgotten in routine care of DMD patients (Level of evidence: 5D, Class of recommendation: D)3030. Esposito S, Passera S. Vaccination in patients with disorders of the muscle and neuromuscular junction. Expert Rev Vaccines. 2013 Nov;12(11):1341-9. https://doi.org/10.1586/14760584.2013.841341 PMID:24127832
https://doi.org/10.1586/14760584.2013.84...
,3131. Ministério da Saúde (BR). Calendáro Nacional de Vacinação. 2018 [Access 2018 June 07]. Available from: http://portalms.saude.gov.br/acoes-e-programas/vacinacao/calendario-nacional-de-vacinacao
http://portalms.saude.gov.br/acoes-e-pro...
.

Table 4
Medications, supplements and vaccines for DMD patients.

Systemic care

Monitor height and weight.

Monitor vitamin D levels: prophylaxis is recommended from diagnosis if insufficient, supplement vitamin D as needed (Table 4). Follow national recommendation for ferrous sulfate prophylaxis. (Level of evidence: 5D, Class of recommendation: D)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...
,3333. Ross AC, Manson JE, Abrams SA, Aloia JF, Brannon PM, Clinton SK et al. The 2011 Report on Dietary Reference Intakes for Calcium and Vitamin D from the Institute of Medicine: what clinicians need to know. J Clin Endocrinol Metab. 2011 Jan;96(1):53-8. https://doi.org/10.1210/jc.2010-2704
https://doi.org/10.1210/jc.2010-2704...
,3434. Ministério da Saúde (BR). Programa Nacional de Suplementação de Ferro. Manual de condutas gerais. Brasília, DF: Ministério da Saúde; 2013..

Stage 2: Early phase of disease symptoms (from two to seven years of age)

From here on, measures to prevent rapid progression of motor function loss are prioritized.

Rehabilitation

Assessment

From this stage on, joint mobility, muscle strength and timed function tests should be measured at each follow-up. Additional motor function evaluation with either the Motor Function Measure or North Star Ambulatory Assessment. (Level of evidence: 2B, Class of recommendation: B)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...
,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...
,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...
,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...
,66. Gloss D, Moxley RT 3rd, Ashwal S, Oskoui M. Practice guideline update summary: Corticosteroid treatment of Duchenne muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology. Neurology. 2016 Feb;86(5):465-72. https://doi.org/10.1212/WNL.0000000000002337
https://doi.org/10.1212/WNL.000000000000...
,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...
(Table 3).

There is an increased risk of autism (3.1%), attention deficit hyperactivity disorder (11.7%), obsessive-compulsive disorder and intellectual disability (34.8%) in DMD boys3535. Cotton S, Voudouris NJ, Greenwood KM. Intelligence and Duchenne muscular dystrophy: full-scale, verbal, and performance intelligence quotients. Dev Med Child Neurol. 2001 Jul;43(7):497-501. https://doi.org/10.1017/S0012162201000913
https://doi.org/10.1017/S001216220100091...
,3636. Hendriksen JG, Vles JS. Neuropsychiatric disorders in males with duchenne muscular dystrophy: frequency rate of attention-deficit hyperactivity disorder (ADHD), autism spectrum disorder, and obsessive: compulsive disorder. J Child Neurol. 2008 May;23(5):477-81. https://doi.org/10.1177/0883073807309775
https://doi.org/10.1177/0883073807309775...
. Different scales are used to assess cognition and neurodevelopment, such as the Wechsler Intelligence Scale for Children (WISC)-IV, Standford-Binet, Raven’s Matrices, Kaufman, Brunet-Lezine, and Vineland scales, all of which have internal validation and are currently used in Brazil, especially by neuropsychologists (Table 3). In current medical assessment, cognitive performance is based on general clinical evaluation by traditional mental function examination (questions about naming, reasoning, and attention) and the need for special education (Level of evidence: 2B, Class of recommendation: B)2929. Mirski KT, Crawford TO. Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis. J Pediatr. 2014;165(5):1008-10..

Intervention

Stretching should be done to maintain joint mobility. Active, active assisted, and/or passive, of the ankle/knee/hip, four to six days a week3737. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):675-87. https://doi.org/10.1016/j.pmr.2012.06.009
https://doi.org/10.1016/j.pmr.2012.06.00...
, from this stage on (Level of evidence: 5D, Class of recommendation: D).

Short orthosis3838. De Souza LH, Frank AO. Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs). Disabil Rehabil. 2016 Aug;38(16):1547-56. https://doi.org/10.3109/09638288.2015.1106599
https://doi.org/10.3109/09638288.2015.11...
for daytime use is recommended to prevent ankle deformity and prolong gait ability (Level of evidence: 4C, Class of recommendation: C).

Physical conditioning is important3939. Angelini C, Tasca E. Fatigue in muscular dystrophies. Neuromuscul Disord. 2012 Dec;22(22 Suppl 3):S214-20. https://doi.org/10.1016/j.nmd.2012.10.010
https://doi.org/10.1016/j.nmd.2012.10.01...
(Level of evidence: 4C, Class of recommendation: C). Low intensity aerobic daily exercise4040. Jansen M, Alfen N, Geurts ACH, Groot IJM, Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial “No use is disuse”. Neurorehabil Neural Repair. 2013;27(9):816-27. https://doi.org/10.1177/1545968313496326
https://doi.org/10.1177/1545968313496326...
(Level of evidence: 3B, Class of recommendation: B) may prevent disuse comorbidity4141. Lovering RM, Brooks SV. Eccentric exercise in aging and diseased skeletal muscle: good or bad? J Appl Physiol (1985). 2014 Jun;116(11):1439-45. https://doi.org/10.1152/japplphysiol.00174.2013
https://doi.org/10.1152/japplphysiol.001...
(Level of evidence: 4C, Class of recommendation: C). This may be either by the use of an arm ergometer under supervision, which preserves and improves the functional level4242. Alemdaroğlu I, Karaduman A, Yilmaz ÖT, Topaloğlu H. Different types of upper extremity exercise training in Duchenne muscular dystrophy: effects on functional performance, strength, endurance, and ambulation. Muscle Nerve. 2015 May;51(5):697-705. https://doi.org/10.1002/mus.24451PMID:25196721
https://doi.org/10.1002/mus.24451PMID:25...
(Level of evidence: 3B, Class of recommendation: B) or assisted bicycle training, for arms and legs, 15 minutes/day, five times a week, with the positive effect on slowing disease progression for the ambulant or wheelchair stage of DMD4040. Jansen M, Alfen N, Geurts ACH, Groot IJM, Assisted bicycle training delays functional deterioration in boys with Duchenne muscular dystrophy: the randomized controlled trial “No use is disuse”. Neurorehabil Neural Repair. 2013;27(9):816-27. https://doi.org/10.1177/1545968313496326
https://doi.org/10.1177/1545968313496326...
(Level of evidence: 3B, Class of recommendation: B). Avoid eccentric muscle loading like jumping on a trampoline.

According to the language, intellectual and behavioral assessment, schooling options, reinforcement classes and other therapies, such as speech therapy and psychopedagogical stimulation, might be added (Level of evidence: 5D; Class of recommendation: D)2929. Mirski KT, Crawford TO. Motor and cognitive delay in Duchenne muscular dystrophy: Implication for early diagnosis. J Pediatr. 2014;165(5):1008-10..

Systemic care

Assessment

The mobility limitation, added to the use of steroids, are factors related to bone morbidity. Follow-up with blood measures of calcium, phosphorus, magnesium, phosphatase, 25-OH vitamin D and parathyroid hormone is important2424. 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:...
(Level of evidence: 5D; Class of recommendation: D).

Cardiological assessment should be implemented, since the involvement of the heart is usually silent or with nonspecific symptoms such as sleep disturbance, loss of appetite or nausea. Therefore, electrocardiography and echocardiography should be carried out on a yearly basis43. If available, cardiac resonance imaging can be used as well4444. McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Circulation. 2015 May;131(18):1590-8. https://doi.org/10.1161/CIRCULATIONAHA.114.015151
https://doi.org/10.1161/CIRCULATIONAHA.1...
(Level of evidence: 5D; Class of recommendation: D).

Intervention

Supplementation of vitamin D should be prescribed according to the blood tests. If available, a dual energy x-ray absorptiometry scan can help to monitor bone over time2424. 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:...
.

Attention to excessive weight gain and advice on healthy nutrition, with control of caloric intake if needed, plays an important role4343. Kinnett K, Rodger S, Vroom E, Furlong P, AartsmaRus A, Bushby K. Imperatives for Duchenne MD: a simplified guide to comprehensive care for Duchenne muscular dystrophy. PLOS Curr. 2015 Aug 7; 7:ecurrents.md.87770501e86f36f1c71e0a5882ed9ba1. https://doi.org/10.1371/currents.md.87770501e86f36f1c71e0a5882ed9ba1
https://doi.org/10.1371/currents.md.8777...
.

Preservation of heart function can be achieved by the use of steroids (see Part 199. Araujo APQC, Carvalho AAS, Cavalcanti EBU, Saute JAM, Carvalho E, França Junior MC et al. Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives. Arq Neuropsiquiatr. 2017 Aug;75(8):104-113. https://doi.org/10.1590/0004-282X20170112.
https://doi.org/10.1590/0004-282X2017011...
). Prevention of cardiac insufficiency might include the use of beta blockers and angiotensin converting enzyme inhibitors (Table 4). As fibrosis may be seen on cardiac imaging, for any decrease in cardiac function from baseline or for heart failure (shortening fraction < 28%, ejection fraction <55%), the use of cardioprotection should be discussed4444. McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Circulation. 2015 May;131(18):1590-8. https://doi.org/10.1161/CIRCULATIONAHA.114.015151
https://doi.org/10.1161/CIRCULATIONAHA.1...
,4545. Politano L, Nigro G. Treatment of dystrophinopathic cardiomyopathy: review of the literature and personal results. Acta Myol. 2012 May;31(1):24-30. (Level of evidence: 5D; Class of recommendation: D).

Stage 3: Transitional phase

Rapid progression of loss of lower limb function. At this point, loss of function will evolve rapidly, and the age limits are very variable. Getting up from the floor, or using stairs will become troublesome, and focus must be on planning to maintain social and educational activities. Some walking aids could be considered.

Rehabilitation

Assessment

The same as mentioned for Stage 2. In addition, if not done previously, respiratory assessment begins, with regular lung function tests that require specific equipment. Longitudinal studies4646. Nève V, Cuisset JM, Edmé JL, Carpentier A, Howsam M, Leclerc O et al. Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children. Eur Respir J. 2013 Sep;42(3):671-80. https://doi.org/10.1183/09031936.00127712
https://doi.org/10.1183/09031936.0012771...
indicate that respiratory function can improve in the first decade, but after that a decline is expected. Sniff nasal inspiratory pressure is the first measure to show decline in young DMD patients4646. Nève V, Cuisset JM, Edmé JL, Carpentier A, Howsam M, Leclerc O et al. Sniff nasal inspiratory pressure in the longitudinal assessment of young Duchenne muscular dystrophy children. Eur Respir J. 2013 Sep;42(3):671-80. https://doi.org/10.1183/09031936.00127712
https://doi.org/10.1183/09031936.0012771...
(Level of evidence: 2B, Class of recommendation: B).

Interventions

Stretching continues. Long orthosis, for joint positioning while standing allows for longer periods of stretching4747. Carbonero FC, Zago GM, Campos D. Assistive technoloogy In Duchenne muscular dystrophy: applicability and benefits. Rev Neurocienc. 2012;20(1):109-16. (Level of evidence: 3B, Class of recommendation: B)4848. Townsend EL, Bibeau C, Holmes TM. Supported standing in boys with Duchenne muscular dystrophy. Pediatr Phys Ther. 2016;28(3):320-9. https://doi.org/10.1097/PEP.0000000000000251
https://doi.org/10.1097/PEP.000000000000...
(Level of evidence: 4C, Class of recommendation: C). Attention to the degree of muscle weakness and fatigue.

Serial casting might be an option for a nonsurgical procedure handling ankle joint deformity4949. Craig J, Hilderman C, Wilson G, Misovic R. Effectiveness of stretch interventions for children with neuromuscular disabilities: evidence-based recommendations. Pediatr Phys Ther. 2016;28(3):262-75. https://doi.org/10.1097/PEP.0000000000000269
https://doi.org/10.1097/PEP.000000000000...
. (Level of evidence: 2B, Class of recommendation: B5050. Glanzman AM, Flickinger JM, Dholakia KH, Bönnemann CG, Finkel RS. Serial casting for the management of ankle contracture in Duchenne muscular dystrophy. Pediatr Phys Ther. 2011;23(3):275-9. https://doi.org/10.1097/PEP.0b013e318227c4e3 PMID:21829124
https://doi.org/10.1097/PEP.0b013e318227...
) (Level of evidence: 4C, Class of recommendation: C).

The pulmonary interventions aim for the maintenance of ventilatory and cough capacities5151. Toussaint M, Pernet K, Steens M, Haan J, Sheers N. Cough augmentation in subjects with Duchenne muscular dystrophy: comparison of air stacking via a resuscitator bag versus mechanical ventilation. Respir Care. 2016 Jan;61(1):61-7. https://doi.org/10.4187/respcare.04033
https://doi.org/10.4187/respcare.04033...
(Level of evidence: 2B, Class of recommendation: B). Air stacking is a technique to promote pulmonary expansion, alveolar recruitment and improve cough efficacy. It can be achieved with glottic respiration, or with the help of a manual resuscitation bag, as well as with a ventilator. The aim is to increase the inspired volume. It should be initiated as a daily intervention as soon as the forced vital capacity falls bellow 80% of the predictive value5252. McKim DA, Katz SL, Barrowman N, Ni A, LeBlanc C. Lung volume recruitment slows pulmonary function decline in Duchenne muscular dystrophy. Arch Phys Med Rehabil. 2012 Jul;93(7):1117-22. https://doi.org/10.1016/j.apmr.2012.02.024 PMID:22421625
https://doi.org/10.1016/j.apmr.2012.02.0...
(Level of evidence: 4C, Class of recommendation: C).

Interventions for developmental delays include physiotherapy, speech/language, and occupational therapy, and should be targeted toward improving specific skills. Speech/language therapists are necessary to treat disorders in phonological awareness/processing (dyslexia). Occupational therapy improves fine motor abilities. Symptoms of depression and anxiety may respond to psychotherapy. Behavior modification therapy and cognitive-behavioral therapy have been shown to be effective in treating attention deficit hyperactivity disorder and oppositional and obsessive-compulsive behaviors5353. Poysky JT. Parent project muscular dystrophy. leading the fight to end Duchenne. Learning and Behavior in Duchenne muscular dystrophy for parents and educators; 2011. [Access 2018 June 07]. Available from: http://www.columbia.edu/cu/md/Learning_and_Behavior_Guide.pdf
http://www.columbia.edu/cu/md/Learning_a...
(Level of evidence: 5, Class of recommendation: D).

Systemic care

Assessment

In addition to regular cardiologic follow-up, a holter is sometimes ordered for the correct diagnosis of arrhythmias4444. McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Circulation. 2015 May;131(18):1590-8. https://doi.org/10.1161/CIRCULATIONAHA.114.015151
https://doi.org/10.1161/CIRCULATIONAHA.1...
.

Stage 4: Initial stage of ambulation loss

From this point of the DMD timeline, the upper limbs deserve attention, to promote as much independence as possible, and respiratory care to limit morbidity and mortality.

Rehabilitation

Assessment

Timed function tests and the North Star Ambulatory Assessment are no longer possible. The Motor Function Measure and Performance of the Upper Limb scale can be used to assess the functional ability. Joint mobility and muscle strength continue to be assessed.

Ventilatory parameters help to indicate the interventions. Low peak flow values (below 270 L/min) increase the risk of complications, secretion aspiration with consequent pneumonia and atelectasia2323. 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...
.

Intervention

Stretching should continue at this point in upper as well as lower limbs.

Hydrotherapy shows no benefit for muscle strength or reduction of body mass index but this modality can improve agility5454. Silva KM, Braga DM, Hengles RC, Beas AR, Rocco FM. The impacto f aquatic therapy on the agility of a non-ambulatory patient with Duchenne muscuar systropyy. Acta Fisiatr. 2011;19(1):42-5. https://doi.org/10.5935/0104-7795.20120009
https://doi.org/10.5935/0104-7795.201200...
(Level of evidence: 4C, Class of recommendation: C) and, through facilitation, can help the movement already lost outside the water in weaker muscles5555. Johnson LB, Florence JM, Abresch RT. Physical therapy evaluation and management in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):633-51. https://doi.org/10.1016/j.pmr.2012.06.005
https://doi.org/10.1016/j.pmr.2012.06.00...
(Level of evidence: 5D, Class of recommendation: D).

A manual wheel chair becomes part of daily living for DMD boys, and should be correctly adapted to slow scoliosis progression, keep a symmetrical posture when sitting on the wheelchair5656. Harvey A, Baker L, Williams K. Non-surgical prevention and management of scoliosis for children with Duchenne muscular dystrophy: what is the evidence? J Paediatr Child Health. 2014 Oct;50(10):E3-9. https://doi.org/10.1111/jpc.12177
https://doi.org/10.1111/jpc.12177...
(Level of evidence: 4C, Class of recommendation: C), and prevent skin ulcers3838. De Souza LH, Frank AO. Rare diseases: matching wheelchair users with rare metabolic, neuromuscular or neurological disorders to electric powered indoor/outdoor wheelchairs (EPIOCs). Disabil Rehabil. 2016 Aug;38(16):1547-56. https://doi.org/10.3109/09638288.2015.1106599
https://doi.org/10.3109/09638288.2015.11...
(Level of evidence: 4C, Class of recommendation: C).

Ventilatory support has a precise indication. Reduction in predicted forced vital capacity (20-25% of predicted) confirms ventilatory insufficiency, and the need to increase intervention. If it is less than 40% of the predicted value, the moment to start ventilatory support is approaching5757. Annane D, Orlikowski D, Chevret S. Nocturnal mechanical ventilation for chronic hypoventilation in patients with neuromuscular and chest wall disorders. Cochrane Database Syst Rev. 2014 Dec;(12):CD001941. https://doi.org/10.1002/14651858.CD001941.pub3
https://doi.org/10.1002/14651858.CD00194...
(Level of evidence: 1A, Class of recommendation: A).

Assisted cough, either with a manual or mechanical maneuver, is indicated during respiratory infections, for those with a peak flow bellow 270 L/min, and to clear airways on a regular basis5151. Toussaint M, Pernet K, Steens M, Haan J, Sheers N. Cough augmentation in subjects with Duchenne muscular dystrophy: comparison of air stacking via a resuscitator bag versus mechanical ventilation. Respir Care. 2016 Jan;61(1):61-7. https://doi.org/10.4187/respcare.04033
https://doi.org/10.4187/respcare.04033...
,5858. Moran FC, Spittle A, Delany C, Robertson CF, Massie J. Effect of home mechanical in-exsufflation on hospitalisation and life-style in neuromuscular disease: a pilot study. J Paediatr Child Health. 2013 Mar;49(3):233-7. https://doi.org/10.1111/jpc.12111
https://doi.org/10.1111/jpc.12111...
(Level of evidence: 3C. Class of recommendation C).

Psychosocial intervention continues as in Stage 3.

Systemic care

Assessment

Once wheelchair bound, attention to spine deformity should be included. Monitor scoliosis on regular imaging and provide adaptation of the wheelchair. Eventually, in some, surgical spinal fusion may be needed5959. Cheuk DK, Wong V, Wraige E, Baxter P, Cole A. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2013 Feb;28(2):CD005375. https://doi.org/10.1002/14651858.CD005375.pub3
https://doi.org/10.1002/14651858.CD00537...
(Level of evidence: 4C, Class of recommendation: C). Bone fractures occur due to osteopenia and osteoporosis. Dual energy x-ray absorptiometry can be used to monitor the bones2424. 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:...
,4343. Kinnett K, Rodger S, Vroom E, Furlong P, AartsmaRus A, Bushby K. Imperatives for Duchenne MD: a simplified guide to comprehensive care for Duchenne muscular dystrophy. PLOS Curr. 2015 Aug 7; 7:ecurrents.md.87770501e86f36f1c71e0a5882ed9ba1. https://doi.org/10.1371/currents.md.87770501e86f36f1c71e0a5882ed9ba1
https://doi.org/10.1371/currents.md.8777...
(Level of evidence: 5D, Class of recommendation: D).

Intervention

For the decision on surgical intervention, both the spine deformity itself (Cobb angle on imaging) and the respiratory status contribute. There are no randomized controlled trials of surgery for scoliosis in patients with DMD. The procedure results in a better sitting position and overall quality of life5959. Cheuk DK, Wong V, Wraige E, Baxter P, Cole A. Surgery for scoliosis in Duchenne muscular dystrophy. Cochrane Database Syst Rev. 2013 Feb;28(2):CD005375. https://doi.org/10.1002/14651858.CD005375.pub3
https://doi.org/10.1002/14651858.CD00537...
(Level of evidence: 4C, Class of recommendation: C). Biphosphonates may be of help for bone health and are usually used when fractures occur2424. 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:...
,4343. Kinnett K, Rodger S, Vroom E, Furlong P, AartsmaRus A, Bushby K. Imperatives for Duchenne MD: a simplified guide to comprehensive care for Duchenne muscular dystrophy. PLOS Curr. 2015 Aug 7; 7:ecurrents.md.87770501e86f36f1c71e0a5882ed9ba1. https://doi.org/10.1371/currents.md.87770501e86f36f1c71e0a5882ed9ba1
https://doi.org/10.1371/currents.md.8777...
(Level of evidence: 5D, Class of recommendation: D).

Constipation is related to the permanent sitting position as well as being associated with hypohydration.

Aldosterone inhibitors can be prescribed for cardiac insufficiency4444. McNally EM, Kaltman JR, Benson DW, Canter CE, Cripe LH, Duan D et al. Contemporary cardiac issues in Duchenne muscular dystrophy. Circulation. 2015 May;131(18):1590-8. https://doi.org/10.1161/CIRCULATIONAHA.114.015151
https://doi.org/10.1161/CIRCULATIONAHA.1...
(Level of evidence: 5D, Class of recommendation: D).

Stage 5: Later stage of disease (late adolescence to adult)

Attention to maintenance of comfort and independence.

Rehabilitation

At this stage, a motorized wheelchair is needed, and arm support should also be provided3737. Skalsky AJ, McDonald CM. Prevention and management of limb contractures in neuromuscular diseases. Phys Med Rehabil Clin N Am. 2012 Aug;23(3):675-87. https://doi.org/10.1016/j.pmr.2012.06.009
https://doi.org/10.1016/j.pmr.2012.06.00...
(Level of evidence: 5D, Class of recommendation: D).

Noninvasive respiratory support has increased DMD survival in the last two decades. A tracheostomy is preferred because it is less invasive, more comfortable and maintains speech capacity. Forced vital capacity below 40% (or 50% for some authors), or the presence of nocturnal hypoxemia or hypercapnia, with the symptoms of fatigue, early morning headache, somnolence, concentration difficulties, loss of appetite, and depression, are indications for the use of bilevel noninvasive ventilation. It should be started with low expiratory positive airway pressure (0-4 cmH2O) and an inspiratory positive airway pressure 10 cmH2O higher6060. Bach JR, Martinez D. Duchenne muscular dystrophy: continuous noninvasive ventilatory support prolongs survival. Respir Care. 2011 Jun;56(6):744-50. https://doi.org/10.4187/respcare.00831
https://doi.org/10.4187/respcare.00831...
(Level of evidence: 2C, Class of recommendation: C). Oxygen supplementation must be used cautiously because of the high risk of hypercapnia narcosis and apnea.

Access to computer technology, and finding and/or keeping an activity day by day, helps the patient lead a meaningful life.

Systemic care

In this stage of the disease, undernutrition may occur and dysphagia may play a role4343. Kinnett K, Rodger S, Vroom E, Furlong P, AartsmaRus A, Bushby K. Imperatives for Duchenne MD: a simplified guide to comprehensive care for Duchenne muscular dystrophy. PLOS Curr. 2015 Aug 7; 7:ecurrents.md.87770501e86f36f1c71e0a5882ed9ba1. https://doi.org/10.1371/currents.md.87770501e86f36f1c71e0a5882ed9ba1
https://doi.org/10.1371/currents.md.8777...
; therefore attention should be directed toward these complications. According to the assessments, diet modifications might be applied.

Emotional support, and identifying and managing depression are also of great importance at this stage.

CONCLUSIONS

There are priority recommendations regarding the follow-up and care of DMD patients at each stage of the disease, that have been described. Anticipating the known complications, and focusing on factors that lead to them, more rapidly help to modify the natural history of the disease.

Care standards recommend preventive measures to minimize contractures, starting at the presymptomatic stage. This has been achieved in some countries6161. Vry J, Gramsch K, Rodger S, Thompson R, Steffensen BF, Rahbek J et al. European cross-sectional survey of current care practices for Duchenne muscular dystrophy reveals regional and age-dependent differences. J Neuromuscul Dis. 2016 Nov;3(4):517-27. https://doi.org/10.3233/JND-160185
https://doi.org/10.3233/JND-160185...
and could be spread globally. Of course, early diagnosis is the main starting point for this achievement, but also the knowledge that non-drug therapies may have a great impact on the speed of the development of functional impairments.

Some protective measures are, unfortunately, not yet current practice: cardiac and respiratory care are examples of areas where a more strict adherence to recommendations should be taken, particularly from Stage 3 onwards. Mortality in DMD is related to cardiac or respiratory complications, and good management in this regard has modified the life expectancy of these patients6262. 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...
.

The literature review for the present consensus comprised the period from 2010 to 2016. The DMD Care Considerations Working Group recently published in 3 parts an update6363. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Brumbaugh D, Case LE, Clemens PR, Hadjiyannakis S, Pandya S, Street N, Tomezsko J, Wagner KR, Ward LM, Weber DR; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.Lancet Neurol. 2018 Mar;17(3):251-67.,6464. Birnkrant DJ, Bushby K, Bann CM, Alman BA, Apkon SD, Blackwell A, Case LE, Cripe L, Hadjiyannakis S, Olson AK, Sheehan DW, Bolen J, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol. 2018 Apr;17(4): 347-61.,6565. Birnkrant DJ, Bushby K, Bann CM, Apkon SD, Blackwell A, Colvin MK, Cripe L, Herron AR, Kennedy A, Kinnett K, Naprawa J, Noritz G, Poysky J, Street N, Trout CJ, Weber DR, Ward LM; DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 3: primary care, emergency management, psychosocial care, and transitions of care across the lifespan. Lancet Neurol. 2018 May;17(5):445-55. for their previous two-part publication on DMD diagnosis and care44. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol. 2010 Jan;9(1):77-93. https://doi.org/10.1016/S1474-4422(09)70271-6
https://doi.org/10.1016/S1474-4422(09)70...
,55. Bushby K, Finkel R, Birnkrant DJ, Case LE, Clemens PR, Cripe L et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: implementation of multidisciplinary care. Lancet Neurol. 2010 Feb;9(2):177-89. https://doi.org/10.1016/S1474-4422(09)70272-8
https://doi.org/10.1016/S1474-4422(09)70...
. With a different methodology of that we used, a very similar final approach is obtained, the priority for the preventable care of DMD and organized by disease stage.

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  • Erratum

    Araújo APQC, Nardes F, Fortes CPDD, Pereira JA, Rebel MF, Dias CM, et al. Brazilian consensus on Duchenne muscular dystrophy. Part 2: rehabilitation and systemic care. Arq Neuropsiquiatr. 2018 Jul;76(7):481-489. DOI: https://doi.org/10.1590/0004-282X20180062
    In Rehabilitation, where it is written:
    Noninvasive respiratory support has increased DMD survival in the last two decades. A tracheostomy is preferred because it is less invasive, more comfortable and maintains speech capacity.
    Should be:
    Noninvasive ventilatory support has increased DMD survival in the last decades. Noninvasive ventilation is preffered to tracheostomy because it is less invasive, more comfortable and maintains speech capacity.

Publication Dates

  • Publication in this collection
    July 2018

History

  • Received
    14 Apr 2018
  • Accepted
    30 Apr 2018
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