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

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Therapy, including daily stretching of the jointsof the limbs, the hip, neck, spine, and jaw can behelpful in the management of contractures.The use of orthotics and some splintingtechniques may also be recommended for dayor nighttime use. Examples include ankle-footorthoses (AFO), including dynamic AFO(DAFO), molded AFO (MAFO), and theknee-ankle-foot orthosis (KAFO), as well asdynamic and passive hand, knee, and elbowsplints.Spinal bracing may be recommended in effortsto prevent the progression of scoliosis. Theeffects on respiratory function must beconsidered with any bracing or orthopedicintervention (see Respiratory Care section).Supportive equipment may become a part ofsupporting your child’s daily activities.Assistance for standing, ambulation, and otherforms of mobility include canes, walking frames,swivel walkers, orthotics, standing frames,scooters, and wheelchairs. Other types ofequipment may be needed for help withtransferring, eating and drinking,communication, turning in bed, toileting,and bathing. It is essential to collaborate witha rehabilitation management team experiencedin treating individuals with neuromusculardisorders.If your child has pain, rehabilitation specialistsmay help manage or improve the pain.Positioning for sitting, standing, and sleeping,as well as finding the correct fit and use oforthoses and braces, may help with pain.Swimming or physical therapy in the watermay also be helpful.Surgical ManagementSurgery may be recommended for your child toimprove or maintain function, reduce pain, orimprove sitting position or the fit of orthoses toallow standing. Surgery in CMD is not withoutrisk; good preoperative counseling is mandatory,and the benefits and risks of any surgeryshould always be discussed with your doctor.The end goal of orthopedic surgery isfunctional benefit.25Hip Instability• If your child is walking, hip surgery maybe considered at an early stage to improvestanding or walking ability. However, theneed to limit movement for a period of timeafter surgery can lead to further jointcontractures and more difficulty walking.• If your child is nonambulatory, thensurgery is only recommended if the hipdislocation causes chronic pain, whichis uncommon.Knee Contractures• Surgery to correct this condition is rarelydone, but may be recommended if severecontractures (>90 degrees) prevent yourchild from sitting comfortably.Ankle Contractures• Surgery for Achilles tendon (heel cord)lengthening is common and can beconsidered to improve walking or tomaintain good posture or the ability towear shoes or orthoses. However, again,postsurgical risks may outweighthe benefits.Scoliosis• The goal of spinal fusion is to preserve thebest possible posture for comfort andfunction. The type and extent of fusionperformed will depend on the ambulatorystatus of your child and the degree ofspinal curvature. The surgery should beperformed by spinal surgeons experiencedin neuromuscular disorders.• Surgery of the spine in very young childrenshould be performed only whenconservative management with bracingcannot be applied or has failed.• Nonfusion techniques, such as “growingrods,” can be used to allow continuedgrowth of the spine of the child; however,this technique requires multiple surgicalinterventions to expand the growing rod.• Surgery for spinal deformities in the olderchild has been shown to improve quality oflife. However, this is a major surgery andsignificant risks are involved that should bethoroughly discussed with your child’sdoctors and medical team.
Box 4ConsiderationsforSpinalSurgeryinCMDA breathing and heart evaluation are mandatory before surgery.If the patient has abnormal pulmonary function (as shown on pulmonary functiontests) intensive respiratory treatment maybeintitiated, including methods such asinsufflation techniques, cough assist, and mechanical ventilation.A meeting should be held with the anesthesiologist to identify challenges toairway management and support during surgery as well as recommendedsedation agents.Effect of hospitalization postoperatively on muscle strength and contracturesneeds to be discussed.All aspects of postoperative activities of daily living after surgery should beaddressed beforehand by the occupational therapist, physical therapist, orrehabilitation specialist, including:oFeeding: self-feeding can be more difficult and may require assistivedevicesoMobility: transfers, hospital bed, and assistive equipment; modifications towheelchairs and home; in-home care and support (social services)oHead and neck: bracing and head support may still be required aftersurgery; increasing neck hyperextension over time is common and needs tobe monitoredPain management (in hospital and at home) must be addressed.Long-term follow-up care by the spinal surgeon will be required.4926
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 27: Table 5Age of onset of orthopedic c
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

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

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