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 |
NA |
Yes |
Nl |
Nl |
Abnl |
1,810 |
No |
No |
| 3 |
15 |
DMD |
Yes |
NA |
Yes |
Abnl |
Abnl |
Abnl |
1,495 |
No |
Yes |
| 4 |
11 |
DMD |
Yes |
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. |
| Exons 48, 49, and 50. |
| 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.
|
