Duchenne Muscular Dystrophy Standards of Care 2018
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1 Duchenne Muscular Dystrphy Standards f Care 2018 Jnathan B. Strber, M.D. Directr, Pediatric Neurmuscular Clinic and MDA Care Center Prfessr, Neurlgy & Pediatrics
2 Members f the multidisciplinary care team Neurmuscular specialist Clinic crdinatr Scial wrker Cardilgist Pulmnlgist Endcrinlgist Psychlgist PT/OT and/r PM&R Dietician (RDN) Genetic cunselr
3 Stages f DMD Stage 1: Diagnsis Stage 2: Early Ambulatry Stage 3: Late Ambulatry Stage 4: Early Nnambulatry Stage 5: Late Nnambulatry 3 Stages f DMD
4 Neurmuscular management Overall management Team leader Discuss benefits and risks f apprved therapies and current clinical trials Prvide infrmatin fr emergency care prviders Cmmunicate with primary care prviders At diagnsis Assure genetic testing and/r muscle bipsy is negative Offer genetic cunseling and testing fr family members Cardilgy evaluatin fr female carriers by early adulthd Dcument immunizatins are up t date Pneumcccal and yearly influenza Discuss use f gluccrticsterids Thrughut all stages Assess functin/strength/ ROM Manage gluccrticsterids Discuss signs, symptms and management f adrenal insufficiency Rx fr IM hydrcrtisne fr emergency use at initiatin Help navigate end-f-life Palliative care can be ffered any time 4 Neurmuscular management
5 Rehabilitatin management PT, OT and/r PM&R specialists Prvide cmprehensive assessments, including standardized testing Strength, functin, ROM, timed functin tests Refer t speech therapy if cncerned abut speech and/r swallwing Thrugh early ambulatry Prevent cntractures, falls Hme stretching review AFOs encuraged early Ask abut falls, fall preventin Apprpriate exercise Discuss pssible future needs Frm late ambulatry n Cntinue previus discussins Assess need fr assistive devices/equipment Ask abut pain 5 Rehabilitatin management
6 Orthpedic and bne management Sclisis Manual inspectin annually thrugh ambulatry stages Radigraph if curve bserved Lateral spine radigraphs fr bne health every 1-2 years n sterids; 2-3 years nt n sterids Radigraphs when first nnambulatry Every 6 mnths after curve detected Refer t Orthpedist if curve >20 degrees r prgressive fr pssible spinal fusin Achilles tendn cntractures Cnsider surgery t imprve gait when ambulatry r fr wheelchair psitining when nnambulatry Refer t bne health expert at earliest sign f fracture, symptmatic r asymptmatic 6 Orthpedic and bne management
7 Endcrine management Often bne health speciaist Discuss IV bisphsphnate therapy if fracture Standing and nnstanding heights at every visit Refer t endcrinlgy when height percentile decreases r velcity <4 cm/yr suggesting impaired linear grwth Pubertal assessments starting at age 9 years Refer t endcrinlgist in absence f pubertal develpment by 14 years Cnsider teststerne replacement fr bys >14 r bys >12 n sterids in absence f pubertal develpment 7 Endcrine management
8 Pulmnary management Lw risk during ambulatry years PFTs annually frm age 5 Sleep study fr signs f sleep disrdered breathing (snring, mrning headaches) Increased assessments during nnambulatry years Twice yearly PFTs Cugh assist Ncturnal-assisted ventilatin (nninvasive preferred) Daytime ventilatin during last half f late nnambulatry stage 8 Pulmnary management
9 Cardiac management Cardilgy evaluatin with ECG at diagnsis and then annually Ech r cardiac MRI at baseline and atleast yearly with ECG r sner if symptms suggest ACE inhibitrs r ARBs by age 10 if n cardiac dysfunctin r sner if signs develp Hlter mnitr fr cncerns f rhythm abnrmalities Heart failure management as needed during late ambulatry phase r later 9 Cardiac management
10 GI management Dietician (RDN) every clinic visit Assess nutritin and grwth, develp nutritin plan Mnitr fr verweight especially when sterids starting, r becming nnambulatry Mnitr fr underweight especially if swallwing dysfunctin r late nnambulatry stage Annual 25-OH vitamin D and calcium intake Vitamin D supplementatin if level <30 ng/ml CA supplementatin if dietary intake lw Assess cnstipatin, GERD, gastrparesis, swallw functin Discuss gastrstmy tube fr weight lss, dehydratin, malnutritin, aspiratin, dysphagia starting late ambulatry stage 10 GI management
11 Psychscial management Assess mental health f patient and family frm diagnsis n Psychlgist, scial wrker, psychiatric nurse Infrmal mental health screen fr depressin and anxiety Referral t psychiatric care if psitive Neurpsychlgical evaluatin fr learning, emtinal and behaviral prblems Speech and language delays, cgnitive delays, autistic spectrum disrder, scial cmmunicatin difficulties, ADD/ADHD, OCD 11 Psychscial management
12 Transitins Prmte age-apprpriate independence and scial develpment Fster gal setting and future expectatins Transitin health care and anticipatry guidance abut health changes Decisin-making supprts r delegatin f health care pwer r attrney Advanced directives Transitin fr educatin and/r emplyment Mbility, transprtatin, husing, ADLs 12 Transitins
13 Sterid management Sterid shuld be discussed at diagnsis and started sme time befre physical decline Vaccines shuld be up t date and varicella immunity established befre starting Chse yur regimen - Prednisne vs. deflazacrt - Daily, 10-day n/ff, 20-day n/10-day ff, high dse weekend - Dsing decreased if side effects r increased if decline - Sterids thrugh nn-ambulatry stages Cnsider starting later if sterid-naive 13 Sterid management
14 Sterid management - Cautins Adrenal insufficiency - Extreme fatigue - Weight lss and decreased appetite - Darkening f yur skin (hyperpigmentatin) - Lw bld pressure, even fainting - Salt craving - Lw bld sugar (hypglycemia) - Nausea, diarrhea r vmiting - Abdminal pain - Muscle r jint pains - Irritability - Depressin DO NOT STOP ABRUPTLY! PJ Nichlff sterid-tapering prtcl IM hydrcrtisne if unable t take by muth Stress dse if taking >12mg/m 2 /day Severe illness Majr trauma Surgery 14 Sterid management - Cautins
15 Sterid management Side effects 1 Side effect Precautins Management Weight gain/besity Increased appetite Eat sensibly Cushingid features Fullness in face and cheeks Diet, minimize sugar and salt Excessive hair grwth Anywhere n bdy Nne needed Acne/fungal skin infectins Usually during teen years Tpic prescriptins Shrt stature Mnitr height Endcrinlgist Delayed puberty Mnitr frm age 9 Cnsider teststerne 15 Sterid management Side effects 1
16 Sterid management Side effects 2 Side effect Precautins Management Behaviral changes Immune suppressin High bld pressure Often wrsen in initial 6 weeks Address minr infectins prmptly BP shuld be checked regularly Treat baseline issues prir t starting sterids Cnsider changing timing f sterids Immunizatins up t date Varicella immunity Decrease salt and weight r cnsider additinal medicatin management 16 Sterid management Side effects 2
17 Sterid management - Side effects 3 Side effect Precautins Management Adrenal suppressin Glucse intlerance Gastritis/GERD Infrm medical persnal taking sterids and carry an alert Dn t miss mre than 24 hurs Mnitr sugar in urine Mnitr bld fr signs f DM Increased thirst and increased urinatin Stmach acid ging int esphagus Cnsider stress dses IM hydrcrtisne Tapering prtcl Limit sugar Cnsider diabetes treatment Avid NSAIDs/ASA Antacids 17 Sterid management - Side effects 3
18 Sterid management Side effects 4 Side effect Precautins Management Peptic Ulcer Disease Cataracts Ostepersis Stmach pain Check stl fr bld Usually benign Annual eye exam Deflazacrt higher risk Discuss fractures and back pain Discuss exercise/ weight bearing prgram befre starting Avid NSAIDs Antacids GI referral Cnsider switch t prednisne Ophthalmlgy cnsult Remve surgically if interfere with visin Spine x-rays every 1-2 years Dexa scans every 2-3 years Yearly Vit D levels and supplement as needed Dietary calcium/supplements 18 Sterid management Side effects 4
19 Emergency Care Cnsideratins Always carry an emergency card (r PPMD App) - Dx - Meds - PFT/cardiac functin studies - Past medical prblems (ie. pneumnia, heart failure, gastrparesis, etc.) Cntact NMS after initial assessment Advise emergency staff if taking sterids If xygen levels drp be careful abut getting xygen withut breathing supprt If pain, be very careful with narctics, especially withut breathing supprt If yu have a brken bne insist they speak with NS and watch fr signs f fat emblism syndrme - Cnfusin/disrientatin, nt acting yurself, rapid breathing and heart rate, shrtness f breath Bring equipment with yu t hspital (ie. cugh assist) 19 Emergency Care Cnsideratins
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