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

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Ulnar length:The length of the lower part of the arm, from thewrist to the elbow, which can be used to calculateheight when someone cannot stand up straight.Valproic acid (VPA):One of the specific types of anticonvulsants.This medication is known by the brand namesDepakote (pills/capsules) and Depakene (liquid).Videofluoroscopy:A type of X-ray that takes a video while someoneswallows foods or liquids to test for aspiration.This test is also called a modified barium swallowstudy.White matter:When we look directly at the brain, we can seethat it has two different colors: white and gray.The white matter (white stuff) is the outside layerof the brain and the gray matter (gray stuff) is onthe inside of the brain. The gray matter is madeup of the nerve cell bodies (where the signalsstart) and the white matter is made up of thenerve fibers (axons, the part that connects onenerve to something else). Axons have a coatingcalled myelin that makes signals travel faster.The myelin is what gives this part of the braina white appearance.A diagnosis of CMD starts with a clinicaldiagnosis. This means that a physician, alliedhealth professional, or physical therapist mustrealize that a person (infant, child, teen, adult)has symptoms or signs of a CMD: early-onsetmuscle weakness with or without contractures,breathing difficulties, or scoliosis. Although theresult of the CK (creatine kinase) blood test maybe high in CMD, it can also be normal.If the clinician feels that the individual has aclinical diagnosis and the symptoms match aknown CMD subtype pattern, the clinician maystart directly with genetic testing (a blood test),if the gene for that CMD subtype is known. Asan example, if a clinician sees a child with a rigidlower spine, flexible fingers, flushed cheeks,keloid scar, bumpy skin (hyperkeratosis pilaris),and elbow contractures, he or she mayrecognize the pattern as collagen VI myopathyand go directly to genetic testing for COL6A1,COL6A2, and COL6A3 mutations.If the clinician feels the individual has CMDbut does not recognize a pattern, the next beststep is muscle biopsy or skin biopsy. A skin biopsycan help diagnose LAMA2 and COL6. (αDGtesting is available only as part of research studyat the University of Iowa).APPENDIX DDiagnostic Tools39Other types of CMDs require a muscle biopsyfor diagnosis. Muscle is looked at under themicroscope for structural problems (calledhistopathology) and then special stains are used tolook for missing proteins (immunohistochemistry)whose absence might cause a CMD. Currentlymost pathology labs have access to staining fordystrophin (Duchenne), merosin, and sarcoglycans.COL6 staining and dystroglycan stainingare performed at only a few labs in the UnitedStates and are not routinely done as part ofmuscle biopsy testing. If the muscle biopsyshows a complete absence or a reduction in animportant protein and matches the individual’ssymptoms, genetic testing is then performed toidentify the problem mutation(s), if possible.Additional tools that may help guide adiagnosis include muscle ultrasound and muscleMRI to look at which muscles are involved.Certain CMD subtypes, such as SEPN1-relatedmyopathy, have involvement of the muscleson the inner thigh, and this is not seen in otherforms of muscular dystrophy. A brain MRIcan contribute to the diagnosis indystroglycanopathies and LAMA2-relatedCMD secondary to characteristic structuraland white matter abnormalities, respectively.Genetic testing is the ultimate confirmation
of CMD. It is important for people with CMDto obtain genetic confirmation, buildingour knowledge of mutations that are diseasecausing,the relationship between any givenmutation and disease severity, and new genediscovery. At this time, not all the genes thatcause CMDs have been identified; however,research is advancing at a much faster rate thanin the past. The hope is to identify all genesinvolved in CMDs in the future.StepstowardaDiagnosisofCMDSubtypeClinical Diagnosisof CMD?NoYesMuscle BiopsyDiagnosis of CMD:staining for proteins andlooking for signs ofmuscular dystrophySkin Biopsy Diagnosis ofCMD: only if clinicaldiagnosis makes LAMA2 orCOL6 the leading contendersfor diagnosis (aDG skinbiopsy testing at U of Iowaon research basis)Protein deficiency identifiedby muscle or skin biopsy: goto genetic testingGenetic Diagnosis ofCMD: this is where wewould like to see allpatients with CMD endup—with genetic testingconfirming the geneinvolved40
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 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: Positive airway pressure (PAP):A ty

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

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