The Management of Congenital Muscular Dystrophy ... - Cure CMD

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7 Orthopedics andRehabilitation ManagementCare of Contractures and ScoliosisPeople with all forms of CMD are commonlyfaced with orthopedic problems of the limbs,joints, and spine. Access to orthopedic care anddifferent types of rehabilitation management isimportant throughout your child’s life to preserveand optimize function; promote comfort,safety, and independent mobility; relieve pain;and maximize quality of life.Orthopedic problems may include joint andneck contractures, hypotonia, scoliosis, footdeformity, and hip dislocation or subluxation.• Conditions that may be present at birthinclude arthrogryposis, hypotonia,torticollis, hip dislocation, scoliosis,and clubfoot.• Common orthopedic problems thathappen when a child is older includedevelopment of contractures andscoliosis, which may affect your child’srespiratory health (see RespiratoryCare section).Orthopedic treatment and rehabilitationinterventions must be seen as both short-termand long-term issues; they should be viewed asan investment for the future.AssessmentYour child’s multidisciplinary team shouldinclude an orthopedist and a physicalmedication and rehabilitation team. Therehabilitation management team includesphysical and occupational therapists, orthotists,and wheelchair, seating, and equipmentspecialists.At least annually, your child should have anevaluation of his or her spine curvature, jointmobility, sitting comfort, and activities of dailyliving. Commonly used assessment tools includephysical examination, spinal X-ray, goniometry,and myometry.For younger children with severe hypotonia,respiratory insufficiency, or an unstable or rapidprogression in the curvature of the spine, or23when there is a poor response to treatmentmeasures, more frequent evaluations by his orher team will be necessary.Parents and caregivers are importantparticipants in monitoring and assisting withtheir child’s orthopedic interventions. You areencouraged to seek expert consultation regardingany orthopedic concerns.Orthopedic ComplicationsAlthough orthopedic complications can occur inall the subtypes of CMD, their severity, type, andlocation differs between the various subtypes ofCMD (see Table 5). Contractures are discussed inmore detail in Box 3.Box 3Contractures in CMD• A contracture is a joint that nolonger moves all the way. Most jointsin the body (like the elbow or knee)are like doors that sit on hinges andcan open and close completely. Whena contracture happens, the hingesdon’t work properly and the doorremains stuck in a half-open,half-closed position.• Having a contracture can makelife more difficult because one losesthe ability to move arms or legs,which remain “stuck” in one position.• Most contractures start gradually andget worse over time. The onlyintervention currently available forcontractures, with limited success, isstretching and low-impact exercisethat encourages full range ofsupported motion (for example,swimming).• Neck or jaw contractures may have asignificant impact on functionalability (movement, feeding) andrequire special considerationregarding anesthesia prior to surgery.
Table 5Age of onset of orthopedic complications related to specific CMDTypical OrthopedicComplicationJoint laxity (wrist,ankles, fingers, toes)Joint contracturesCMD SubtypeCOL6-RM, DG-RD,SEPN1-RMUllrich CMD*,complete LAMA2-RDDG-RD, partialLAMA2-RDLMNA-RD, COL6-RMWhen?At birth; may turn intocontracturesMay present at birth;contractures start before losingwalking ability if walkingContractures start after losingability to walkHip dislocation COL6-RM At birthNeck contractures UCMD, LAMA2-RD,LMNA-RDDevelop from age 0–10 yearsof lifeSpinal rigidity SEPN1-RM, LMNA-RD, COL6-RM,Progressive lower spinalrigidityLAMA2-RDScoliosis UCMD At birth (kyphoscoliosis)LMNA-RD, SEPN1- Early-onset: early childhoodRM, LAMA2-RD,RYR1-RMDG-RDLate-onset (lumbar lordosis):teenage years with loss ofambulation*Note in this table, Ullrich CMD (UCMD) is separated from COL6 to show that UCMD,or the early-onset more progressive form of COL6, may be affected earlier. COL6 in thistable means intermediate and Bethlem forms of Collagen VI myopathy. Similarly completeand partial LAMA2-RD are separated out to denote, complete (early onset, MDCIA) andpartial (late onset, ambulatory MDC1A).Abbreviations: DG-RD, alpha-dystroglycanopathy; CMD, congenital musculardystrophy; COL6-RM, collagen VI related myopathy; LAMA2-RD, laminin 2 relateddystrophy, including MDC1A; RYR1-RM, ryanodine receptor 1related myopathy;SEPN1-RM, selenoprotein N1 related myopathy; LMNA-RD, lamin A/C CMD.ManagementA proactive preventive approach is an essential partof managing the orthopedic complications of CMD.Communication between the orthopedist,rehabilitation team, and your family is importantso that interventions make the most sensefor your child.24Your child should be referred to physical oroccupational therapy before development ofcontractures, loss of motor function, altered gait,abnormal positioning, pain, scoliosis, problemswith transfers, joint deformity, or loss ofactivities of daily living occur.45
Page 6 and 7: Box 1CMD-LGMD Subtypes(abbreviation
Page 11 and 12: Hospital CareYour child may require
Page 13 and 14: 4 Respiratory ManagementCare of Bre
Page 15 and 16: Types of PulmonaryFunction Testing
Page 17 and 18: • fast heart rate or breathing ra
Page 22 and 23: 6 Cardiac ManagementTaking Care of
Page 24: IMPORTANT FACTS TO REMEMBERBe aware
Page 29 and 30: Box 4ConsiderationsforSpinalSurgery
Page 31 and 32: family to plan meaningfully and eff
Page 33 and 34: Children with LAMA2-RD are born wit
Page 35 and 36: Neurologist:A physician who has spe
Page 37 and 38: Advocate:To work with your child’
Page 39 and 40: Genetic mutation:A change in a pers
Page 41 and 42: Positive airway pressure (PAP):A ty
Page 43: of CMD. It is important for people

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