Table 1 Muscular Dystrophy Diagnosis and Treatment
Patient # Age (yrs) Diagnosis DNA Deletion Muscle Biopsy MF by CMR Echo X-Ray ECG CK Steroids ACEI
1 8 DMD* No NA No Nl Nl Abnl 11,596 Yes No
2 18 DMD Yes{dagger} NA Yes Nl Nl Abnl 1,810 No No
3 15 DMD Yes{dagger} NA Yes Abnl Abnl Abnl 1,495 No Yes
4 11 DMD Yes{ddagger} NA Yes Nl Nl Abnl 1,988 Yes No
5 10 DMB§ No NA No Nl Nl Nl 19,700 No No
6 13 DMB§ No NA Yes Nl Nl Nl 9,908 No No
7 7 DMD No + Yes Nl Nl Nl 6,248 Yes No
8 10 DMD No + Yes Nl Nl Abnl 9,420 Yes No
9 15 DMD No + Yes Abnl Abnl Abnl 6,348 Yes Yes
10 11 DMD No + No Nl Nl Abnl 4,270 No No
* Classical Duchenne phenotype, affected brother and carrier mother with increased CK level.
{dagger} Exons 48, 49, and 50.
{ddagger} Exons 51 and 52.
§ Siblings.

+ = absence of dystrophin; Abnl = abnormal; ACEI = use of angiotensin-converting enzyme inhibitors; CK = creatine phosphokinase (normal values <109 U/l for older and <225 U/l for younger than 12 years); CMR = cardiovascular magnetic resonance; DMB = Becker muscular dystrophy; DMD = Duchenne muscular dystrophy; DNA = deoxyribonucleic acid; ECG = electrocardiogram; Echo = echocardiography; MF = myocardial fibrosis; Nl = normal; steroids = use of glucocorticoids; X-ray = conventional chest radiograph.