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

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Your child’s diaphragm muscles may beweak without producing any other obvioussymptoms. This is unique to several CMDsubtypes; respiratory problems may beginwhile your child is still walking (see Table2) even though in most other formsof muscular dystrophy, respiratory problemsdo not start until after a child can nolonger walk. This fact makes it even moreimportant that your child be evaluated bya pulmonologist before symptoms are seen.Table 2Onset of typical breathing problems in known CMD subtypesCMD SubtypeOnset of Breathing ProblemsCOL6-RM Early-onset night-time breathingproblems with diaphragm weakness Breathing support needed on averageby age 11 yearsSEPN1-RM Early onset of night-time breathingproblems; may occur before losing theability to walk Breathing support needed on averageby age 10 yearsLAMA2-RD Association seen between declines inmotor function and respiratory function Breathing support needed on averageby age 11 yearsDG-RD with cognitive Severe progression of muscle weaknessimpairment (WWS, MEB,and respiratory failureFukuyama) Breathing management may start atbirth or in first decade if severe muscleweaknessDG-RD without cognitive Association seen between declines inimpairment and LGMDmotor function and respiratory functionforms Breathing management starts whenperson loses the ability to walkAbbreviations: CMD, congenital muscular dystrophy; FKRP, fukutin-related protein;LAMA2, laminin A2; LGMD, limb-girdle muscular dystrophy; MEB, muscle-eye-braindisease; SEPN1, selenoprotein; WWS, Walker-Warburg syndrome.11
Types of PulmonaryFunction Testing• Spirometry is used to document breathingfunction; this test should be done on at leastan annual basis by at least age 6 years.Spirometry testing can occur during yourchild’s regular pulmonology visit or at aseparate appointment. Most often thistesting is administered by a respiratorytherapist before your child’s exam withthe clinician. This noninvasive testing mayinclude the measurement of your child’sforced vital capacity (FVC) and peak coughflow; these are measured by having the childbreathe into a tube or mask. These tests mayalso be referred to aspulmonary functiontests, or PFTs.• Nocturnal (nighttime)oximetry(“pulse ox”) painlessly measures bloodoxygen saturationlevels using a sensorattached typically to afinger or toe.Sometimes the sensor looks like a bigBand-Aid or is kept on the finger or toe withjust a piece of tape.• Polysomnography, or a sleep study, is anoutpatient overnight testing procedureconducted in a sleep lab; it is done asrecommended by your child’spulmonologist, who may recommendit on an annual basis. This test is helpfulin the monitoring of night-time respiration,and can discover if sleep apnea is presentand how severe it is. Sleep studies can alsobe used to monitor the results of bilevelpositive airway pressure (BiPAP) use and toguide adjustments to such use.• Blood gases are measured through a blooddraw. This procedure is used to measure theO2 and CO2 levels in the blood if a child ishaving new or severe breathing problems.• End-tidal CO2: This is measured using adevice that measures the CO2when a personbreathes out. It can help a pulmonologistunderstand how well a person who is onbreathing support (BiPAP or ventilator)is breathing and whether adjustments insettings need to be made. This device mayalso be used by a pulmonologist to checkCO2 levels for people with CMD who arejust starting to have breathing issues but arenot on breathing support.• A speech and swallow evaluation may beconsidered whenever there are symptomsindicating risk for aspiration, such as cough,choking, difficulty swallowing, poor feeding,or failure to thrive.Preventive Respiratory CarePneumococcal (pneumonia) and annualinfluenza (flu) vaccines are recommended forall children and adults with CMD. It is alsorecommended that Synagis, the vaccine toprevent respiratory syncytial virus (RSV), begiven to children under age 2 years.Your child will benefit from the followingmethods that improve his or her ability to movesecretions, cough efficiently, and help keeptheir airway and lungs open:• Cough assistance using a mechanicalinsufflator-exsufflator apparatus (“coughmachine,” “coughalator,” or Cough Assist)may help to remove mucus from the lowerairways.• Breath stacking techniques, as taught byyour child’s pulmonologist, may help reducethe risk of chronic collapse of areas of thelungs (atelectasis).• Chest physical therapy using a dailyintrapulmonary percussive ventilation(IPV) regimen may also assist in theclearance of secretions.• A bronchial drainage chest compressionvest (percussive vest) provides rapid chestcompression to mobilize secretions.Your child may have breathing problems due to otherfactors not related to CMD. Although asthma is nota symptom of CMD, if it is diagnosed in your child itshould be treated with bronchodilators and inhaledsteroids as needed. Treatment of asthma in childrenwith CMD is no different from treatment for childrenwithout CMD.12
Page 6 and 7: Box 1CMD-LGMD Subtypes(abbreviation
Page 11 and 12: Hospital CareYour child may require
Page 13: 4 Respiratory ManagementCare of Bre
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 and 28: Table 5Age of onset of orthopedic c
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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