SCOTTISH MUSCLE NETWORK DUCHENNE MUSCULAR DYSTROPHY MULTIDISCIPLINARY PATHWAY
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SCOTTISH MUSCLE NETWORK
DUCHENNE MUSCULAR DYSTROPHY
MULTIDISCIPLINARY PATHWAY
Approved July 2019
Review July 2022
NSD610-018.23 V1
Page 1 of 38This care pathway was developed in 2015, and updated in 2019, to support the multi-disciplinary care of boys and young men with Duchenne Muscular Dystrophy in Scotland. The care pathway has been developed from the model of the DMD Scottish Physiotherapy Profile (Journal of the Association of Paediatric Chartered Physiotherapists, 2007) and we are very grateful to the physiotherapy network for all the work they have done in laying the foundations and template design for the multi-disciplinary care pathway. This care pathway is intended to be used as a guideline in the management of DMD, in a format which is easy to use, by all members of the multi- disciplinary team, in a clinical setting. It is not intended to be prescriptive of management in specialist areas, but rather as an overview of interventions at key stages in the progress of this condition. Further guidance on the multi-disciplinary management of DMD is now available, and this care pathway is best read in conjunction with this- "Updated international care consensus for management of DMD 2018" The pathway has been written with support from the following working and advisory groups, to whom we are very grateful. Scottish Neuromuscular Physiotherapy Group Scottish Muscle Network Paediatric Subgroup Scottish Paediatric Cardiologists Scottish Paediatric Respiratory Interest Group Scottish National Spinal Deformity Services Scottish Adult Home Ventilation Services Scottish Muscle Network Transitional Care Subgroup Scottish Paediatric Endocrinologists Approved July 2019 Review July 2022 NSD610-018.23 V1 Page 2 of 38
Contents
Page Number
Stages 4
Stage 1: Diagnosis and Early Stage 5
Stage 2: Young Mobile 6
Stage 3: Going Off Feet 7
Stage 4: Early Power Chair Users 8
Stage 5: Long Term Powered Wheelchair User 9
End of Life Care 11
Useful Information 12
Appendix 1: The Use of Steroids in Duchenne Muscular Dystrophy 13
Appendix 2: SMN – Guidelines for the Management of Bone Mineral Density Problems in Boys with DMD 23
Appendix 3 – Cardiac Assessment in DMD 25
Appendix 4: Respiratory Chart for DMD 27
Appendix 5: Lung Volume Recruitment Techniques 30
Appendix 6: Epworth Sleepiness Scale 32
Appendix 7: Spinal Fusion 33
Appendix 8: References 35
Appendix 9: Useful Contacts 38
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Page 3 of 38STAGES
In considering the care pathway, assessments and interventions it is helpful to consider stages of DMD.
Stage 1 Early/pre-symptomatic
This may occur when diagnosis has been made incidentally, for example diagnostic screening for boys presenting with developmental
delay or in families with a positive family history. Being given a new diagnosis like this is devastating for families, sensitive counselling
and support at this time can influence the family’s ability to manage in the future.
Stage 2 Early ambulant
In this stage boys may present with motor difficulties for example toe walking, or difficulty with activities such as running, hopping and
stairs. Later boys may have difficulty rising from the floor (Gower’s manoeuvre). Interventions at this stage are aimed at maintaining
mobility and preventing secondary complications.
Stage 3 Late Ambulant/going off feet
Mobility is increasingly difficult. Boys have difficulty managing stairs and walking distances. They may be prone to falls and have difficulty
getting back up on their feet without assistance. Long bone fractures can occur, and may lead to loss of mobility. Loss of ambulation can
be predicted and anticipatory planning is needed
Stage 4 Early non-ambulant
In this stage boys are able to sit independently but have lost the ability to walk. In addition to wheelchair provision to aid independent
mobility, good postural management is required with particular attention to the increased risk of scoliosis.
Stage 5 Late non-ambulant
In this stage boys have difficulty maintaining posture, and upper limb function is affected, impacting on other activities of daily living.
Ability to feed and possible difficulties with oro-motor function can lead to nutritional problems. Respiratory and cardiac functions are
more likely to be impaired, and require interventions. Adolescence and transition to adult services, further education and employment
require careful planning and co-ordination.
Stage 6 Palliative Care/ End of Life
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Page 4 of 38Young men with DMD do face living with a life-limiting condition. Planning for end of life care should be in place when it becomes
appropriate.
STAGE 1 – Diagnosis and Early Stage
Difficulties Diagnosis/ Paediatrician After diagnosis Genetics Physiotherapy Orthotics Equipment/ Social Services Education
Presenting OT
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Page 5 of 38Speech / Global -Referral to Paediatric -Information Information about -Encourage -For foot -Equipment -Information -Referral to local
developmental Neurologist and/or should be given genetic basis for activities as able, variations provision not about DLA - pre-school inter
Delay/FTT. Community both in verbal and diagnosis consider referral to such as pes usually Mobility agency planning
-Muscle Paediatrician with NM in written form e.g wheelchair services planus (flat required at this component from group.
weakness special interest for *MDUK leaflets Family tree and risk for reinforced feet) it may stage. age 3 -Referral to pre-
(particularly assessment and *DMD care card of carrier status buggy/light be useful to -Consider Blue badge for school education
proximal) investigation. *SMN leaflet determined wheelchair if refer to an access issues parking. support services if
presenting with -Investigations include: *Treat-NMD DMD mobility impaired. orthotist for with -Free nappies cognitive
gross motor CK, Genetic testing for Family Guide Testing for carrier -Avoid muscle insoles / physiotherapy from age 4 if developmental
difficulties eg mutation analysis and -Information status and strengthening/ and inlays. eg home and continence issues concerns.
waddling gait, sequencing if required, about support counselling of eccentric exercise -Night nursery/school (Health visitor). -For
running, Consideration of muscle groups results, including (It is advisable to splints may . -Referral to social nursery/school
hopping, stairs. biopsy if genetics are *MDUK campaign cardiomyopathy avoid strengthening be -Develop- work OT if information about
-Toe walking negative. *Action Duchenne screening of female exercises and appropriate if mental housing issues. diagnosis would
(tight TAs). -Referral to Genetic clinic, -Request carriers eccentric muscle loss of range assessment if -Referral be helpful.
-Boys will Refer to Physiotherapist permission to work as this can of appropriate to/information -Consider
rise from the Occupational therapist enrol SMN CAS Other family cause further dorsiflexion with given about social accessibility
floor via a prone SALT if necRefer for initial and North star if members at risk damage to the is noted. programme to work services for issues (OT and
position using cardiac assessment. appropriate identified and muscle cell promote skills. family assessment PT).
their hands to -Consider whether -Information offered counselling membrane). if need for -Transport to
“walk” up their appropriate to refer to about/referral to -Introduce and additional support school may be
body. (Gower’s clinical trials or treatments Neuromuscular Risk for siblings advise on stretches services. helpful.
manoeuvre). depending on mutation e.g care advisor or discussed and for tight muscle -Support and -Additional
-muscle Ataluren/Eteplirsen family support. offered future groups and joints. information for support may be
cramps. -Information genetic counselling -Advice for nursery/ siblings. required in
-Pseudo about other local when appropriate teachers on fatigue educational
hypertrophy of support groups issues and muscle environment.
calves. weakness.
*Information about
single shared
support plan to
family
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Page 6 of 38Stage 2 – Young Mobile
Description of Paediatrician Respiratory Physiotherapy Orthotic/ Equipment Support Education
difficulties Orthopaedic Provision Services
-Motor skills affected by -Discuss role and prescribing -Ensure -Liaise with Lead -Night orthoses -Around age 5 *MDUK & -Raise
progressive muscle regimes of steroids (0.75mg/day immunisations Consultant and for years if Family care awareness of
weakness eg difficulty prednisolone OR Deflazocort are up to date. NM gastrocnemius mobility/fatigue/ advisor/ associated
with jump / run / hop and 0.9mg/kg/day: continuous vs 10 -Annual physiotherapist re when ankle falling is Action developmental
frequent falls. day on/off pulse therapy). influenza steroid therapy range of problematic Duchenne/ and learning
Difficulty with stairs and *Steroid Parent information leaflet immunisation and 6 monthly movement is encourage Information on difficulties, may
rising from chairs. given. Recommended. North Star compromised. use of lightweight SMN family be global or
-Changes to gait with -Issue steroid care card and -Consider Ambulatory -Continuation manual wheelchair events & specific,
lumbar lordosis and information leaflet in event of pneumococcal Assessment with inlays / rather than buggy. patient group. increased risk of
waddling/trendelenberg intercurrent illness. vaccination if not (modified version insoles if *refer to MDUK -Social SLD including
gait. Refer to endocrinology already given. for centres not appropriate. wheelchair and services ASD and ADHD.
-Pseudo-hypertrophy of clinic/specialist nurse for steroid -Baseline lung signed up NS -Walking AFO’s seating guidelines. If need for -Increased risk of
muscles e.g. emergency protocol and function tests project). not usually -Specialised additional mental health and
gastrocnemius / deltoid. hydrocortisone injection training. (Annual -Encourage recommended as seating and support at emotional
-Risk of contractures and Information and video on SMN FVC/FEV1) activities e.g. this can cause equipment in home. difficulties.
tightness at end of range website. Cardiovascular swimming as able. deterioration in school may be -Consider - May need
particularly ankles, hips If starting steroids: -Avoid standing/ walking beneficial -refer to Social work additional support
and wrist flexors. *Check vit D calcium and bone -Information strengthening ability. MDUK booklet on O.T. (Housing for learning
-Muscle cramps and pain studies. Consider dexa scan leaflet re: cardiac exercise inclusive and -Action
after activity. baseline and annual/bi-annual assessment especially education. adaptations). Duchenne
-Learning difficulties in screening according to current given to families. eccentric muscle -Local sleep Learning and
school, may be global or guidelines. vit D supplement 400- -ECG and work. counselling or behaviour toolkit
specific, increased risk of 800 IU daily. echocardiography -Continuation of *Sleep which can be
SLD including ASD and -Check varicella titres and offer biannual after stretches Scotland if downloaded.
ADHD. immunisation if negative. age 6- screening appropriate to problems with -Consider access
-Increased risk of mental -Assess TB risk and offer BCG if for stage of sleeping to curriculum and
health and emotional appropriate. cardiomyopathy progression (refer through the accessibility of
difficulties -Assess growth and BMI. Healthy in ambulant boys to Scottish night. classrooms and
diet information given, 6 monthly with DMD Physiotherapy -Support facilities.
paediatric review for side-effects profile for specific through
(BP, growth, behaviour, urinalysis physiotherapy school,
for glucose, fundoscopy adjust relating to stage of clinical
steroid dose as required for the condition). psychology
growth or side effects. Demonstration or CAMHS
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Page 7 of 38-Recommend family attend local videos available if concern
orthoptist annually for cataract on SMN website about
screening. behaviour or
mental health.
Stage 3 – Going off feet
Difficulties Paediatrician Respiratory Physiotherapy Orthotic/orthopaedic Equipment and postural Support Education
Description bone health management Services
-Increased -Paediatrician maintains -Monitor FVC -Continuation of -Night AFO’s if child is still -PT/OT assessment to -Social -As above
effort and time to overview of all medical annually while stretches / passive compliant. minimise risk of falls. services -Moving and
rise from chair / care. above 50% then movements and -Consider daytime -Manual wheelchair with support at handling
floor. May be -Discussion about 6monthly. exercises as able. AFOs if sitting in wheelchair supportive cushion and home review as per
unable to rise treatment plan for -Ensure -Hydrotherapy if for long periods of time. backrest. Referral for /respite care local
without support. continuation of steroids if immunisations up available. -Referral to local powered wheelchair. It may as above. policy (both
-Increasing prescribed. Monitoring for to date. -6 monthly North orthopaedic surgeon if be appropriate to consider -Motability at home
frequency of side-effects as above -Encourage Star Ambulatory contractures present-may a powered chair with (adapted and school).
falls. including, BP, urinalysis, annual influenza n Assessments need future surgery. advanced functions (see vehicle should -Raise
-Requires a weight, behaviour - and pneumococcal (NSAA). -Risk of long bone fracture MDUK booklet on be considered awareness
wide base of annual bloods FBC, vaccination if not -Continue to increased, often associated wheelchairs and seating). at this stage). of need for
support. calcium, phosphate, alk already. monitor lower limb with loss of continuing -Introduce standing frame -Blue Badge hoisting.
-Difficulty phos/ vitD/ gluc contractures as ambulation. if appropriate Consider heel for parking. -Postural
standing with -dexa studies Cardiac surgery may be -Maintain mobility/ standing wedges to assist standing if -Safety risk of support
heels down. ability within a standing dorsiflexion compromised. stairs, housing
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Page 8 of 38-Difficulty -check emergency -Information indicated once non frame/ wheelchair if -Familiarisation with safe needs to be within the
standing still for protocol. leaflet re: cardiac ambulant. appropriate. moving and handling/ accessible and classroom
>3s. -Discuss need for spinal assessment given -Games to -Thoracolumbar lateral x- hoisting techniques. adapted for and
-Tires easily and respiratory to families* promote effective rays if complains of back -Profiling bed for home wheelchair increased
with physical assessment on loss of -ECG and echo in – expiration eg pain. with lateral tilt if available. assistance
activity. ambulation. biannual screening wind instruments, -Referral/discussion re: may be
-Increased -Review of emotional and for cardiomyopathy Blowing bubbles, bisphosphonate therapy in required for
upper limb mental status. From age 6 whilst Incentive event of low impact toileting
weakness. ambulant. spirometer. fracture, if low bone mineral -Wheelchair
-Asymmetry -Blood pressure -Inspiratory muscle density present accessible
noted in monitoring at training not transport to
standing and paediatric clinic if recommended as it school.
sitting. still on steroids. requires resistance.
-Consider pre-
symptomatic
treatment if cardiac
function
deteriorating.
Stage 4 – Early Power Chair Users
Difficulty Paediatrician Respiratory Cardiac Orthopaedic Equipment Support Services
Description Provision/OT
-Boys have lost -Paediatrician maintains -Refer to local Respiratory -Cardiac review annually for -Referral to national -Introduction to -Consider referral to children
ability to walk overview of medical care and Paediatrician for cardiomyopathy screening. spinal deformity sleep system if social work team for community
independently co-ordination. respiratory assessment. -If cardiac screening centre for spinal unable to change support/ respite services if not
but may be able -Discussion about treatment -Monitor FVC 6-12 undertaken by paediatrician management if position in bed already known.
to sit and assist plan for continuation of steroids monthly while > 50%, For refer to cardiology services if scoliosis develops. -Profiling bed -Introduction of care agency to
with transfers. if prescribed. Monitoring for 6-12 monthly night time abnormalities on screening, if -Surgical TA release should be issued assist with areas of personal
-Increased risk side-effects as above including, SpO2 (ideally with CO2) not already known. may improve sitting -Standing frame care.
of scoliosis. BP, urinalysis, weight, behaviour once FVC-Some ability to Not on steroids, every 2–3 (ideally carboxyography) 6- removal of plasters to hip / knees are Education self-propel years. 12 monthly if FVC
Stage 5 – Long Term Power Wheelchair User Description Paediatric Clinic Respiratory Cardiac GI/ Nutritional Support Services -Young person is -Paediatrician maintains -Immunisations up to date. -Cardiac review annually or as -Nutrition BMI monitored at -Continence care adviser for dependent on overview of medical care -Active treatment of recommended. Monitor ECG and paediatric/young adult clinic. toileting difficult eg power chair for and co-ordination. respiratory infections with echo annually.MRI if indicated. -Referral to SALT for feeding Uribags (discreet bottles). mobility, unable to -Review steroid antibiotics. -Consider treatment with ACE assessment of concerns/risk of -Young people’s advocacy assist with prescription and side- -Teach parents / carers chest inhibitors +/- Beta blocker if aspiration. services. transfers, no effects if still prescribed. clearing and assisted coughing progressive changes seen. -Referral to dietetics if concerns re: -Welfare Rights. longer has sitting Steroid monitoring as techniques. Including access Treatment should be initiated ideally intake and weight. -Referral to social work services balance. above. Check to cough assist machines if before onset of symptoms -Consider referral for gastrostomy for respite care and support at -Scoliosis may emergency protocol. clinically indicated. (development of symptoms is placement if weight unsatisfactory home. be rapidly -Referral to - (app 1) Consider Lung usually late due to immobility). despite supplements or Transition to adult/ other progressive if endocrinology age 14 for volume recruitment -Monitor for rhythm disturbances, supplements needed > 2 years. services surgical puberty assessment or if techniques. symptoms of cardiac failure -Assess symptoms of GO reflux -Consider further education/ intervention growth poor if on steroid -Monitor spirometry at least Consider treatment if appropriate. and manage appropriately. Employment/independent living. delayed. Therapy. annually. -Holter monitoring if arrhythmia/ -Assess bowel function and -Transition support worker if -Respiratory - Bone health -Arrange overnight oximetry palpitations. management. available. function may be -Consideration of (ideally carboxyography) 6-12 -SMN leaflets “some useful things impaired, with transitional care to adult monthly if FVC
Description Paediatric clinic Respiratory Physiotherapy GI/Nutritional Equipment Provision Support Services
Person is Consider emergency Medication to reduce saliva Passive movements SALT Specialised pressure reducing
dependent for all care and links with acute and secretions and regular assessment if mattress may be required such as
care hospitals Cough augmentation and positioning to relieve concerns about an airflow mattress. Profiling
chest clearing techniques if pain and pressure safe swallow/ risk bed/chair. Occasionally collar is
Functional muscle Consider: tolerated of aspiration required to support airway when
power may be anticipatory care Addition of assisted daytime Complementary lying
limited to finger planning, DNR plan, ventilation when sats therapies may be Consider non oral
movements
palliative care register- dropping or symptoms helpful nutrition with NG Wheelchair provision with adequate
Difficulty chewing see below present daytime despite tube or degree of tilt, consider chairs with
and swallowing / nocturnal ventilation gastrostomy specialised function
loss of appetite Ventilation used more placement
and weight loss frequently at this stage. Ensure adequate head support
Frequent chest Invasive ventilation may be Ensure adequate particularly during feeding and
infections considered with fluid intake to travelling).
tracheostomy and access to prevent Positioning with pillows or sleep
Multiple airway suctioning if daytime dehydration system for comfort
contractures support required
Changing plinth/ shower
Day time Cardiac
ventilatory Hoist for transfers
assistance may
be required Environmental controls and aids to
support independent living as far as
Difficulty sitting possible
upright in chair –
spending long
periods of time in
bed
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Page 12 of 38End of Life Care DMD is a progressive disease and life expectancy is limited. It is difficult to pinpoint when someone is reaching end stages of their life, but at some point everyone will. With this in mind, the opportunity needs to be taken to talk about end of life care, to plan ahead about the things that are important to the young person and their loved ones, before and around the time of death. A review of the young person’s wishes, priorities and needs should be undertaken with their active participation, and that of their family and loved ones, at this time. Whilst practitioners working within children’s and adult’s palliative care services will assist with end of life and bereavement care, a number of tools are available e.g. the Anticipatory Care Planning tool (Living and Dying Well). This can help any staff working with the young person at this sensitive time to engage and involve them in reviewing their wishes and those of their family and loved ones, and to draw up an end of life plan. Use of the Together for Short Lives Core and Transitional Care Pathways can help ensure good care planning and managing of end of life needs. District Nurses and GPs are familiar with the Gold Standards Framework, and out of hours palliative care summary systems that assist these services to support and provide effective end of life care at home if this is the young person’s wishes Approved July 2019 Review July 2022 NSD610-018.23 V1 Page 13 of 38
1. MDUK booklet - Introductory guide for families with a child newly diagnosed with Duchenne Muscular Dystrophy
2. MDUK website- www.musculardystrophyuk.org
3. Action Duchenne website - www.actionduchenne.org
4. Scottish Muscle network website- www.smn.scot.nhs.uk
5. Scottish Muscle network- “some useful things to know about DMD” leaflet available on website
6. Scottish Muscle network- DMD care card leaflet available on website
7. A Guide for parents- the Education (Additional support for Learning)(Scotland) Act 2004- www.scotland.gov.uk
8. Steroids and duchenne muscular dystrophy- FAQs- available on MDC website (appendix 2)
9. Healthy eating for children with NM conditions- available on MDC website (appendix 3)
North star information and consent form
10. North star project - monitoring for side-effects of steroids (appendix 1)
Scottish Muscle Network - guideline for bone management in DMD (appendix 1)
11. Wheelchair provision for children and adults with muscular dystrophy and other neuromuscular disorders
www.musculardystrophyuk.org
12. Sleep Scotland- www.sleepscotland.org
13. Learning and Behaviour Toolkit- action Duchenne website www.actionduchenne.org
14. Physiotherapy management for boys with DMD- available on website www.musculardystrophyuk.org
15. Scottish Muscle network leaflet “some useful things to know about transition” available on SMN website www.smn.scot.nhs.uk
16. TREAT-NMD DMD Care Standards www.treat-nmd.eu/care/dmd/dmd-care
17. TREAT-NMD DMD Family Guide www.treat-nmd.eu/care/dmd/family-guide
18. Passive movement and stretches video www.smn.scot.nhs.uk
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Page 14 of 38Appendix 1
THE USE OF STEROIDS IN DUCHENNE MUSULAR DYSTROPHY
CONSENSUS BEST PRACTICE 2005
Recommendations
These recommendations are based on review of the existing literature and clinical
experience of the members of the North Star Network for paediatric neuromuscular
disease management.
The decision to start glucocorticoid treatment should be made by a physician
experienced in management of DMD, after a full discussion with the affected child and
the parents. The arrangements for long term follow up should be made at a clinic / centre
with medical and physiotherapy facilities for monitoring of disease activity and
glucocorticoid therapy are available.
Which Glucocorticoid?
Prednisolone: We consider Prednisolone to be the glucocorticoid of choice in view of
our familiarity and experience in the UK studies and clinical practice, its easy availability
and low cost, and the high incidence of cataracts reported with the use of deflazacort.
Prednesol 5mg water-soluble tablets may have the benefit of ease of administration and
less gastrointestinal side effects.
Deflazacort: Deflazacort appears to have less weight gain side effects. Randomized
controlled trial to compare deflazacort and prednisolone for their adverse effects is in
process. Deflazacort may be a consideration for prednisolone treated boys who have
excessive weight gain which is unresponsive to dietary / exercise / dose adjustments.
What dose?
The starting dose is as follows:
Prednisolone 0.75 mg/kg/day, (rounded off to the nearest 2.5 mg e.g. 10, 12.5, 15,
17.5 or 20 mg per day), to a maximum of 40 mg/day.
In glucocorticoid equivalence, 1 mg prednisolone = 1.2 mg deflazacort
0.75 mg prednisolone = 0.9 mg deflazacort
Which regime?
The preceding text explains why there is no overwhelming consensus on which to base
didactic recommendations on continuous (daily) prednisolone vs an intermittent
(repetitive cycles of 10 days on, 10 days off prednisolone) regime.
In view of these facts a reasonable option is to explain our current understanding of the
pros and cons of these two treatments to each family and allow them to make an
informed consent decision on whether to opt for the daily regime or the intermittent
regime. An information sheet highlighting the two regimes is available at the MDC North
Star website.
In both regimes the dose may require a decremental adjustment, if there are side effects.
Each patient offered corticosteroid therapy should be included as part of an agreed
protocol to monitor efficacy and minimise potential side effects of treatment.Contraindications to the use of prednisolone in DMD Hypertension, diabetes mellitus, gastric / peptic ulceration are relative contraindications. Use of Prednisolone in DMD The following recommendations for prednisolone therapy have been customised for specific age (and functional) groups of boys with DMD because of the variability in the therapeutic response and the side effects in these groups. A randomised trial of glucocorticoids in young vs older DMD patients has not been published but analysis of subgroup of patients studied by Taylor suggests a more significant response in the younger patients (Dubowitz 1997). This was further highlighted by the recent report by Dubowitz et al (2002) and other unpublished data from the group of Angelini. On the other hand, the long term cumulative side effects of steroids initiated at an early age in DMD have not been systematically assessed in large studies. The age specific recommendations attempt to get the best benefit vs risk ratio at the various disease stages. "Presymptomatic" phase (age range 0 - 3 years) This group comprises of boys who are diagnosed early on the basis of family history or following incidental discovery of high CK or ALT/AST in the course investigation of other medical problems. There may be a theoretical advantage in starting glucocorticoid treatment early, prior to major muscle cell necrosis and replacement by fibrosis. With the evidence available however, we are reluctant to expose these young boys to the long term side effects of steroid treatment at a relatively asymptomatic stage and therefore do not recommend routine use of prednisolone in this group. Early ambulant phase (4 - 7 years) The option of glucocorticoid therapy should be offered to all families in this age group being followed up at centres with expertise and facilities for long term monitoring of efficacy of treatment and side effects. If the possible side effect profile is acceptable to the parents / child and physician, treatment may be initiated in the context of a nationwide program with regular audit to enable improvements in clinical practice. Late ambulant phase (7 years till loss of walking) These are boys who often have lost the ability to rise from the floor and their walking is deteriorating gradually or rapidly, with impending loss of ambulation. Glucocorticoids should also be offered at this stage, provided the adverse effect profile is acceptable to the family and the physician. It has to be appreciated that the benefit of starting glucocorticoids, from the mobility perspective, at this age might be limited. The decision regarding treatment entails a full discussion with the family and the need for monitoring facilities as above. Constant wheel chair dependent phase There is little data, in this group, to support the initiation of glucocorticoid therapy, and at this stage, the adverse effects may out-weigh potential benefits. In view of the reported long term improvement of respiratory function (Biggar 2002, Alman 2004), pilot studies to demonstrate the effect of glucocorticoids on respiratory muscles are being considered Approved July 2019 Review July 2022 NSD610-018.23 V1 Page 16 of 38
When to discontinue glucocorticoid treatment. The functional and clinical benefit is almost always obvious within 6 months treatment. If there is no improvement / stabilisation over the first 6 months of treatment, glucocorticoid therapy may be discontinued. The presence of side effects unacceptable to the child / parents / physician Loss of ambulation. In this situation, the risks and side effects of ongoing treatment may outweigh the potential benefits. However, in view of the possible benefit to arm and respiratory function, this policy needs to be kept under review and under discussion with families. Protocol of monitoring - "Good practice" Baseline assessment Baseline assessment should include the following Full physiotherapy assessment urine dipstix testing full blood count (FBC), random glucose, electrolytes urea, creatinine 25OH Vit D levels varicella antibodies, bone mineral density assessment by Dual X-ray Absorptiometery (DXA) scan is desirable (See further under "strategy for prevention of osteoporosis"). Dietary advice. Referral to the dietician at initiation of prednisolone should be made. Emphasis on plans to prevent excessive weight gain and maintenance of adequate Vit D and Calcium intake is recommended. Screening for Tuberculosis: Family history of tuberculosis (Tb) should be sought from all at the baseline assessment. If there is history of active Tb in a family member, this would be a contra-indication for steroid use, till the affected member has been fully treated, the boy has received the appropriate screening prophylaxis and infectious diseases specialist’s review and advice. Boys from communities with high incidence of Tb (eg recent immigrants from developing world countries) should be offered Mantoux testing and BCG as indicated, with parental consent prior to joining the trial; such children should not be started on prednisolone until 4 months following the BCG vaccination. Varicella vaccination should be offered to boys who are susceptible as evidenced by varicella antibody negative status. This will prevent routine future need for Zoster Immunoglobulin (ZIG) and acyclovir on exposure of these boys to chickenpox. If the boy is coming up to school starting age, consideration may be given to expedite the MMR pre-school booster ahead of starting the glucocorticosteroid. MMR pre-school booster can be given from 3.5 years of age onwards. Progression of disease activity / response to treatment Regular assessments should be done at 3 months and then six monthly or more frequently if indicated in a particular patient. Approved July 2019 Review July 2022 NSD610-018.23 V1 Page 17 of 38
Physiotherapy assessment (according to North Star assessment protocol)
MRC score
Timed Gowers’ manoeuvre (starting from the cross legged sitting position)
10 metres walking times
Motor ability score
Measurement of contractures
Myometry of 4 muscle groups (elbow flexion; grip; knee flexion; knee extension)
Forced vital capacity (FVC), as soon as the boys are able to co-operate with the
technique.
Monitoring of possible side effects at each assessment – (Table 3)
Weight plotted on Child Growth Foundation Chart
Standing height //
BP
Urine dipstix testing for glucose
Cushingoid features
Mood / behavioural / personality / GI / skin changes
Screening for cataracts with red reflex
Record any bone fractures
Record any intercurrent infections
Specialised assessments to include
Ophthalmologic review for cataracts is not recommended as routine, as the huge
majority of steroid induced cataracts have been asymptomatic. Red reflex should be
screened for on each assessment. Visual acuity should be tested annually, and this can
be done by the opticians)
Echocardiogram to be performed, as clinically indicated, before any surgery and at time
of loss of ambulation. Please note the ENMC workshop recommendations
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Page 18 of 38Adverse event Measure Prophylactic Events as criterion for dose Events as criterion for drug Specific comments
group measures reduction withdrawal
Behaviour Parental Advice on Behaviour changes disrupting family/ Severe behaviour changes
changes reporting behaviour school life disrupting family/ school life
modification
Weight Weight for Dietary 25% or 3 centile increase from Weight gain unacceptable to
age/ height/ advice baseline child/ family despite dietetic
BMI input/ dose reduction
Height Standing Failure to gain height that is Failure to gain height that is
height or unacceptable to child/ family unacceptable to child/ family
arm span in despite dose reduction
non -
ambulatory
Bone Density DEXA Dietary Treat limb fractures
annually if advice about with early
available, Ca & Vit D, mobilisation.
recording of sunshine, Treat vertebral
fracture exercise fractures with iv
history bisphosphonates
Glucose Glycosuria Dietary fasting blood sugar >110 126 checked if glycosuria
glucose two hours after meal mg/dl or blood glucose 2 present on urinalysis
>140Table 3. Managing steroid side-effects / adverse events
of echocardiogram at diagnosis, before any surgery, every two years till 10 years of age and then annually
(Bushby et al 2003)
Management of side effects – Please refer to tables 3
Strategy for prevention of osteoporosis
This issue was discussed in detail in an MDC sponsored workshop (Quinlivan 2005).
The key aspects recognized were as follows:
Three published studies have demonstrated that in boys with DMD, the bone mineral density as measured by
DEXA scanning, is lower than normal for age (Larson 2000, Aparicio 2002, Bianchi 2003).
The high fracture incidence in DMD, ranging from 20 - 40 % is well recognised. In-patients not treated with
glucocorticoids these fractures are almost exclusively in the limbs, and spare the vertebrae.
Nutritional aspects for prevention of osteopenia / osteoprosis are important. One study (Bianchi 2003)
documented low 25 OH Vit D levels in boys with DMD. Checking for this at diagnosis and treatment if
indicated is recommended
With long term glucocorticoid use in long non-randomised studies, a high incidence of vertebral fractures has
been reported (Bothwell 2003)
Long term steroid use, with cumulative doses of glucocorticoid, inevitably leads to trabecular bone loss,
osteoporosis, and consequent vertebral fractures. The effect on long bones is not as marked.
DEXA scan measured bone density scores have been used in adults for WHO definition of osteoporosis, but
these criteria cannot be applied in children.
The pitfalls of DEXA scanning, and the need to interpret DEXA bone density Z scores in context of child's age,
height, weight (Fewtrell 2003) emphasized.
"Given the difficulties discussed, a child may most appropriately act as his or her own control, with serial
(DEXA) scans to monitor progress" (Fewtrell 2003)
At present, in the paediatric age group, the precise correlation / threshold (if any) of Bone density Z scores
and risk of vertebral fractures is not known. DEXA scan, therefore, in an individual boy with DMD not predict
the vertebral fracture. Serial DEXA scans in the individual patient can identify trends of change, and may be
used to monitor the effect of specific treatment.
In patients on Gluccortcicoid treatment, there is no evidence base to demonstrate prevention of osteoporosis
with the routine use of Ca or Vit D. (This will obviously not be applicable to the individual patient who is Ca or
Vit D deficient)
There is not enough paediatirc data to support routine clinical prophylactic use of bisphosphonates in boys
with DMD on glucocorticoids.
Glucocorticoid therapy induced osteoporotic vertebral fractures can be treated effectively with IV palmidronate
treatment, and the anticipated duration of treatment is usually 1 year
Dr Quinlivan is the paediatric lead for submitting a grant proposal for a study of bone density and effects of
bisphosphonate treatment in DMD.
The clinical role of DEXA scanning in DMD and it's glucocorticoid treatment is still being clarified. Acquisition
of data and further studies in this area may allow us to better delineate the clinical and prognostic value of
DEXA scans over the coming years.
DEXA scans of children should be interpreted by or in collaboration with centres with a clinical team with a
specific interest and expertise in bone densitometry in children, especially if the scan results are to be used to
start or change treatment.
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Page 20 of 38The North Star Network will review the osteoporosis assessment and prevention policy in future with the further
availability of data.
As of now, the following are recommended
Ca and Vit D intake dietary assessment at diagnosis and initiation of Glucocorticoids
25OH Vit D levels check at diagnosis / initiation of glucocorticoids
DEXA scan is desirable at starting glucocorticoids
In DMD boys on glucocorticoid treatment, lateral XR of thoraco lumbar spine and DEXA scan will be indicated
for
back pain
spinal deformity
loss of height
Serial DEXA scans may be indicated to monitor patients with vertebral fractures on bisphosphonate treatment.
Please ensure that the DXA scan software uses age appropriate normative bone density data from paediatric
population to define normal ranges and to calculate z scores, and that any abnormal results are discussed
with the regional "Bone metabolism expert"
Management of Osteoporosis / Fractures
Single long bone fracture is not considered an indication for DEXA scan or discontinuation of glucocorticoids.
Recurrent long bone fractures or a single vertebral fracture will need to be discussed with the "bone metabolism
specialist" / endocrinologist. Effective treatment with IV palmidronate is available. The decision to
continue/discontinue prednisolone depends on the quantum of benefit to that child, and his and the parental
wishes.
Data collection and maintenance of database
It is important to systematically collect sequential data on disease progression and the effects and side effects of
prednisolone treatment and maintain a database of all affected boys at the local neuromuscular centres. This is
essential to facilitate audit and research and improve clinical practice. The North Star network project co-ordinator
will be instrumental in this regard.
Muscular Dystrophy UK
MDUK has a suite of factsheets which you can find here:
https://www.musculardystrophyuk.org/search/healthy+eating+and+neuromuscular
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Page 21 of 38References
Alman BA, Raza SN, Biggar WD. Steroid treatment and the development of scoliosis in males with Duchenne
muscular dystrophy. J Bone Joint Surg Am. 2004 Mar;86-A(3):519-24.
Anderson JE, Weber M, Vargas C. (2000). Deflazacort increases laminin expression and myogenic repair, and
induces early persistent functional gain in mdx mouse muscular dystrophy. Cell Transplant 9(4):551-64
Angelini C, Pegoraro E, Turella E. et al (1994). Deflazacort in Duchenne dystrophy: Study of long-term effect. Muscle
Nerve,17:386-391
Aparicio LF, Jurkovic M, DeLullo J. Decreased bone density in ambulatory patients with Duchenne muscular
dystrophy. J Pediatr Orthop. 2002 Mar-Apr; 22(2): 179-81
Azarnoff DL. (1975). Steroid therapy. WB Saunders Co, Philadelphia PA
Backman E, Henriksson KG (1995). Low-dose prednisolone treatment in Duchenne and Becker muscular dystrophy.
Neuromuscul Disord, 5(3):233-41.
Bal E, Sanwall W (1980). A synergistic effect of glucocorticosteroids and insulin on the differention of myoblasts. J
Cell Physiol, 102:27-36
Beenakker EA, Fock JM, Van Tol MJ, Maurits NM, Koopman HM, Brouwer OF, Van der Hoeven JH Intermittent
prednisone therapy in Duchenne muscular dystrophy: a randomized controlled trial. Arch Neurol. 2005 Jan;62(1):128-
32.
Bianchi ML, Mazzanti A, Galbiati E, Saraifoger S, Dubini A, Cornelio F, Morandi L. Bone mineral density and bone
metabolism in Duchenne muscular dystrophy. Osteoporos Int. 2003 Sep; 14(9): 761-7. Epub 2003 Jul 29
Biggar WD, Bachrach LK, Henderson RC, Kalkwarf H, Plotkin H, Wong BL. Related Articles, Bone health in
Duchenne muscular dystrophy: a workshop report from the meeting in Cincinnati, Ohio, July 8, 2004. Neuromuscul
Disord. 2005 Jan;15(1):80-5
Biggar WD, Gingras M, Fehlings DL, Harris VA, Steele CA (2001). Deflazacort treatment of Duchenne muscular
dystrophy. J Pediatr, 138(1):45-50
Biggar WD, Harris V. Alman B, Vasjar J. (2002) Deflazacort benefits boys with Duchenne Muscular Dystrophy.
Neuromuscular Disorders 12:738
Biggar WD, Politano L, Harris VA, Passamano L, Vajsar J, Alman B, Palladino A, Comi LI, Nigro G. Deflazacort in
Duchenne muscular dystrophy: a comparison of two different protocols. Neuromuscul Disord. 2004 Sep;14(8-9):476-
82.
BNF. British National Formulary (2000), British Medical Association and Royal Pharmaceutical Society of Great
Britain. No 40
Bonifati MD, Ruzza G, Bonometto P, Berardinelli A, Gorni K, Orcesi S, Lanzi G, Angelini C (2000). A multicentre,
double-blind, randomized trial of deflazacort versus prednisone in Duchenne muscular dystrophy. Muscle Nerve,
23:1344-7.
Bothwell JE, Gordon KE, Dooley JM, MacSween J, Cummings EA, Salisbury Vertebral fractures in boys with
Duchenne muscular dystrophy. Clin Pediatr (Phila). 2003 May; 42(4): 353-6
Bothwell JF, Dooley JM, Gordon KE, et al. (2001) Vertebral fractures in boys with Duchenne muscular dystrophy.
Dev Med Child Neurol 43. Supp 90. Page 39
Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Florence J, King
Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley R, Miller JP, Province MA (1983). Clinical investigation in
Duchenne dystrophy: 2. Determination of "power" of therapeutic trials based on the natural history. Muscle Nerve,
;6:91-103
Brooke MH, Fenichel GM, Griggs RC, Mendell JR, Moxley RT 3d, Miller JP, Kaiser KK, Florence JM, Pandya S,
Signore L, et al (1987). Clinical investigation of Duchenne muscular dystrophy. Interesting results in a trial of
prednisone. Arch Neurol, 44:812-7.
Brooke MH, Griggs RC, Mendell JR, Fenichel GM, Shumate JB, Pellegrino RJ (1981). Clinical trial in Duchenne
dystrophy. I. The design of the protocol. Muscle Nerve, 4:186-97
Bushby K, Muntoni F, Urtizberea A, Hughes R, Griggs R. Report on the 124th ENMC International Workshop.
Treatment of Duchenne muscular dystrophy; defining the gold standards of management in the use of
corticosteroids. 2-4 April 2004, Naarden, The Netherlands. Neuromuscul Disord. 2004 Sep;14(8-9):526-34
Bushby K, Muntoni FM, Bourke (2003). Cardiac investigations in muscular dysrophies.107th ENMC international
workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th-9th June
2002, Naarden, the Netherlands. Neuromuscul Disord. 13: 166-72.
Campbell C, Jacob P. Deflazacort for the treatment of Duchenne Dystrophy: a systematic review. BMC Neurol. 2003
Sep 8; 3(1)
Approved July 2019
Review July 2022
NSD610-018.23 V1
Page 22 of 38 Carter GT, McDonald CM (2000). Preserving function in Duchenne dystrophy with long-term pulse prednisone
therapy. Am J Phys Med Rehabil, 79:455-8.
Committee on Safety of Medicines, Medicines Control Agency (1998). Calcort (Deflazacort): advertising has been
withdrawn. Curr Prob Pharmacovigilance, 24:10
Connolly AM, Schierbecker J, Renna R, Florence J. High dose weekly oral prednisone improves strength in boys with
Duchenne muscular dystrophy. Neuromuscul Disord. 2002;10:917-25.
Demos J, Tuil D, Berthelon M, Katz P, Broyer M, Riberi P, Testard R, Rognon LM, Pillet J, Collin P (1976).
Progressive muscular dystrophy. Functional improvement after a renal allograft. J Neurol Sci. 30:41-53.
DeSilva S, Drachman DB, Mellits D, Kuncl RW (1987). Prednisone treatment in Duchenne muscular dystrophy. Long-
term benefit. Arch Neurol. 44:818-22.
Drachman DB, Toyka KV, Myer E (1974). Prednisone in Duchenne muscular dystrophy. Lancet. 14;2(7894):1409-12.
Dubowitz V (1991). Prednisolone in Duchenne dystrophy. Neuromusc Disord, 3:161-163
Dubowitz V (1995). Muscle Disorders in Childhood Second Edition, W B Saunders.
Dubowitz V (1997). 47th ENMC International workshop: treatment of muscular dystrophy. 13-15 Dec,1996, Naarden,
The Netherlands. Neuromusc Disord. 7:261-267
Dubowitz V (2000). 75th ENMC International workshop: Treatment of muscular dystrophy, Baarn 10-12 Dec, 1999.
Neuromusc Disord, 10:313-320
Dubowitz V, Heckmatt J (1980). Management of muscular dystrophy. British Medical Bulletin, 36:139-144
Dubowitz V, Kinali M, Main M, Mercuri E, Muntoni F. Remission of clinical signs in early Duchenne muscular
dystrophy on intermittent low-dosage prednisolone therapy. Eur J Paediatr Neurol. 2002; 6(3): 153-9
Dubowitz V, Kinali M, Mercuri E, Muntoni F. Remission of clinical signs in early Duchenne muscular dystrophy on
intermittent low dose prednisolone therapy. European Journal of Paediatric Neurology. 2002: 6;1
Dubrovsky AL, Corrado Angelini, Bonifati DM (1998). Steroids in muscular dystrophy: Where do we stand?
Neuromusc Disord, 8: 380-384
Edwards RH, Round JM, Jackson MJ, Griffiths RD, Lilburn MF (1984). Weight reduction in boys with muscular
dystrophy. Dev Med Child Neurol. 26:384-90.
Elia M, Carter A, Bacon S. et al (1981). Clinical usefulness of urinary 3-methylhistidine excretion in indicating muscle
protein breakdown. Br Med J (Clin Res Ed) 282:351-4
Emery AEH (1993). Duchenne muscular dystrophy. 2nd edition. Oxford Monographs on Medical Genetics, Vol 24.
Oxford University Press
FASEB J. 2005 Feb 25; [Epub ahead of print]
Fenichel GM, Florence JM, Pestornk A. et al (1991). Long-term benefit from prednisolone in Duchenne muscular
dystrophy. Neurology 41:1874-1877,
Fenichel GM, Mendell JR, Moxley RT 3d, Griggs RC, Brooke MH, Miller JP, Pestronk A, Robison J, King W, Signore
L, et al (1991). A comparison of daily and alternate-day prednisone therapy in the treatment of Duchenne muscular
dystrophy. Arch Neurol. 48:575-9.
Fewtrell MS; British Paediatric & Adolescent Bone Group. Bone densitometry in children assessed by dual x ray
absorptiometry: uses and pitfalls. Arch Dis Child. 2003 Sep; 88(9): 795-8
Fisher I, Abraham D, Bouri K, Hoffmann E, Muntoni F, Morgan J. Prednisolone-induced changes in dystrophic
skeletal muscle.
Frey BM, Frey FJ (1990). Clinical pharmacokinetics of prednisone and prednisolone. 19:126-46
Griffiths RD, Edwards RH (1988). A new chart for weight control in Duchenne muscular dystrophy. Arch Dis Child
63:1256-8
Griggs RC, Moxley RT, Mendell JR. et al (1991). Prednisolone in Duchenne dystrophy: a randomised trial defining
the time course and dose response. Arch Neurol 48:383-388
Griggs RC, Moxley RT, Mendell JR. et al (1993). Duchenne dystrophy: randomized, controlled trial of prednisone (18
months) and azathioprine (12 months). Neurology. 43:520-7Houde S, M. Filiatrault, P. Daignault, M. Vanasse, J.
Dube, A. Fournier, Y. Brousseau, D. Berube, G. Lapierre Duchenne Muscular Dystrophy: An Eight-Year Experience
with Deflazacort. Xth International Congress on Neuromuscular Diseases, Vancouver, Canada, 8th-12th July 2002.
Hawker GA, Ridout R, Harris VA, Chase CC, Fielding LJ, Biggar WD. Alendronate in the treatment of low bone mass
in steroid-treated boys with Duchenne muscular dystrophy. Arch Phys Med Rehabil. 2005 Feb;86(2):284-8
Houde S, Filiatrault M, Daignault P, et al (2002) Duchenne Muscular Dystrophy: An Eight-Year Experience with
Deflazacort. Xth International Congress on Neuromuscular Diseases, Vancouver, Canada, 8th-12th July 2002. S
120.65.Journal of Neurological Sciences Suppl 11
Kinali M, Banks LM, Mercuri E, Manzur AY, Muntoni F Bone mineral density in a paediatric spinal muscular atrophy
population. Neuropediatrics. 2004 Dec;35(6):325-8.
Approved July 2019
Review July 2022
NSD610-018.23 V1
Page 23 of 38 Kissel JT, Burrow K, Rammohan KW. et al (1991). Mononuclear cell analysis of muscle biopsies in prednisolone and
azathioprine treated Duchenne muscular dystrophy. Neurol 41:667-672
Larson CM, Henderson RC (2000). Bone mineral density and fractures in boys with Duchenne muscular dystrophy. J
Pediatr Orthop. 20:71-4.
Manzur A, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane
Database Syst Rev. 2004;2:CD003725
Manzur AY, Dubowitz V. 2000 "Muscular dystrophies" in New treatments in Neurology. Ed Neil Scolding. Butterworth
Heinemann
Manzur AY, Kuntzer T, Pike M, Swan A. Glucocorticoid corticosteroids for Duchenne muscular dystrophy. Cochrane
Database Syst Rev. 2004;(2):CD003725.
Manzur AY. 2001"Treatment of muscular dystrophy" in Muscular dystrophy. Ed AEH Emery. Oxford Medical
Publications
McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones DH, Pike MG. Fracture
prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol. 2002 Oct; 44(10): 695-8.
McDonald DG, Kinali M, Gallagher AC, Mercuri E, Muntoni F, Roper H, Jardine P, Jones DH, Pike MG. Fracture
prevalence in Duchenne muscular dystrophy. Dev Med Child Neurol. 2002 Oct;44(10):695-8
Mendell JR, Moxley RT, Griggs RC. et al (1989). Randomized controlled trial of prednisolone in Duchenne's muscular
dystrophy. NEJM 320:1592-1597,
Merlini L, Cicognani A, Malaspina E, Gennari M, Gnudi S, Talim B, Franzoni E. Early prednisone treatment in
Duchenne muscular dystrophy. Muscle Nerve. 2003;2:222-7
Mesa LE, Dubrovsky AL, Corderi J, Marco P, Flores D (1991). Steroids in Duchenne muscular dystrophy--deflazacort
trial. Neuromuscul Disord. 1:261-6.
Moxley RT 3rd, Ashwal S, Pandya S, Connolly A, Florence J, Mathews K, Baumbach L, McDonald C, Sussman M,
Wade C; Quality Standards Subcommittee of the American Academy of Neurology; Practice Committee of the Child
Neurology Society. Practice parameter: corticosteroid treatment of Duchenne dystrophy: report of the Quality
Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology
Society. Neurology. 2005 Jan 11;64(1):13-20
Muntoni F, Fisher I, Morgan JE, Abraham D. Steroids in Duchenne muscular dystrophy: from clinical trials to genomic
research. Neuromuscul Disord. 2002 Oct;12 Suppl 1:S162-5
Pandya S, Myers G and RT Moxley. Effect of daily prednisone on independent ambulation in patients with Duchenne
muscular dystrophy treated up to 15 years. World Muscle Society Congress, Salt Lake City, Utah, 5-8th September
2001. Neuromuscular Disorders, 2001; 11,
Pandya S, R.T. Moxley. Long Term Daily Prednisone Therapy Delays Loss of Ambulation and Decline in Pulmonary
Function in Patients with Duchenne Dystrophy. Xth International Congress on Neuromuscular Diseases, Vancouver,
Canada, 8th-12th July 2002.
Pasquini F, Guerin C, Blake D. et al (1995). The effect of glucocorticoids on the accumulation of utrophin by cultured
normal and dystrophic human skeletal muscle satellite cells. Neuromusc Disord 5:105-114
Passaquin AC, Lhote P, Ruegg UT(1998). Calcium influx inhibition by steroids and analogs in C2C12 skeletal muscle
cells. Br J Pharmacol 124(8):1751-9
Quinlivan R, Roper H, Davie M, Shaw NJ, McDonagh J, Bushby K. Report of a Muscular Dystrophy Campaign
funded workshop Birmingham, UK, January 16th 2004. Osteoporosis in Duchenne muscular dystrophy; its
prevalence, treatment and prevention. Neuromuscul Disord. 2005 Jan;15(1):72-9.
Rahman MM, Hannan MA, Mondol BA, Bhoumick NB, Haque A. Prednisolone in Duchenne muscular dystrophy.
Bangladesh Med Res Counc Bull. 2001 Apr;27(1):38-42
Reitter B (1995). Deflazacort vs. prednisone in Duchenne muscular dystrophy: trends of an ongoing study. Brain Dev.
17 Suppl:39-43.
Rifai Z, Welle E, Moxley RT. et al (1995). Effect of prednisolone on protein metabolism in Duchenne muscular
dystrophy. Am J Physiol 268:E67-E74
Sansome A, Royston P, Dubowitz V (1993). Steroids in Duchenne muscular dystrophy; Pilot study of a new low-
dosage schedule. Neuromusc Disord 3:567-569
Scott OM, Hyde SA, Goddard C, Dubowitz V (1982). Quantitation of muscle function in children: a prospective study
in Duchenne muscular dystrophy. Muscle Nerve 1982 ;5:291-301
Siegel IM, Miller JE, Ray RD (1974). Failure of corticosteroid in the treatment of Duchenne (pseudo-hypertrophic)
muscular dystrophy. Report of a clinically matched three year double-blind study. IMJ Ill Med J. 145:32-3
Talim B, Malaguti C, Gnudi S et al. (2002) Vertebral compression in Duchenne muscular dystrophy following
deflazacort. Neuromuscul Disord. 12:294-5.
Winter K, Schara U, Mortimer J, Liersch R, Mortier W (1999). Duchenne muscular dystrophy with long term steroid
Approved July 2019
Review July 2022
NSD610-018.23 V1
Page 24 of 38therapy. Absence of cardiac side effects. Acta Myologica III:159162
WM, Pandya S, Robison J, Schierbecker J, et al (1989). Duchenne muscular dystrophy: patterns of clinical
progression and effects of supportive therapy. Neurology, 39:475-81.
Wong BL, Christopher C. (2002) Corticosteroids in Duchenne muscular dystrophy: a reappraisal. J Child
Neurol.17:183-90
Appendix 2
Scottish Muscle Network - Guideline for the Management of
Bone Mineral Density Problems in
Boys with Duchenne Muscular Dystrophy
Introduction
Duchenne Muscular Dystrophy (DMD) is the most common muscular dystrophy of boys, and is characterised by
poor muscle function and progressive loss of ability to walk, generally with patients becoming wheelchair bound
by teenage years. Children and young people with poor mobility are at increased risk of osteoporosis and
pathological fractures.
There is good evidence that corticosteroids given to ambulant boys with DMD improve muscle function, at least in
the short term1. Most boys with DMD will be started on corticosteroids, either on intermittent pulse therapy or
continuous treatment.
Long term use of corticosteroids and prolonged poor mobility are independent risk factors for pathological fracture.
Over time as children get older and, possibly, less mobile, bone mineral density (BMD) falls in DMD and this fall
may be most marked in those treated with corticosteroids2.
Bone mineral density can be measured by a Dual Energy X-ray Absorptiometry (DXA) scanner and this service is
available in most large hospitals for monitoring osteoporosis in the elderly. However, for children, the results
should be interpreted by a clinician or paediatrician with a knowledge of DXA scans in children.
There is evidence in adult practice that prophylactic use of bisphosphonates may be beneficial (3) but insufficient
evidence exists for this in children, and is not currently recommended.
This guideline is based on consensus between local and regional paediatricians with interests in neuromuscular
disorders and metabolic bone disease.
Aim
The aim of this guideline is to maintain health, mobility and function as much as possible, by promoting bone
health, measuring bone mineral density and treating those with fractures.
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Page 25 of 38You can also read
