| Demographic Data |
| Relation to Proband |
proband |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Age at Diagnosis (in years) |
8 |
| Age at first symptom or medical concern |
1 |
| Relative with similar muscle disease |
Yes |
| If yes, give their relationship(s) to you |
BROTHER |
| Skeletal/Mobility |
| Scoliosis |
Unknown |
| Broken bones due to DMD |
No |
| Delays in motor development was initially recognized |
Yes |
| Toe Walking initially recognized |
Unknown |
| Enlarged calves initially recognized |
Unknown |
| Walking |
Yes |
| If yes, type of walking device |
NONE AS YET |
| Mobility device ie stroller, wheelchair |
No |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
Yes |
| If yes, list those you are currently taking |
PREDNISONE |
| What is the current dosage of medication(s) |
DAILY |
| Use of alternative therapies |
No |
| Taking heart medication |
Yes |
| Tendon release surgery |
No |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Cardiomyopathy |
No |
| Cardiac MRI |
Yes |
| Echocardiogram |
Yes |
| Holter monitor |
Yes |
| Taken the Left Ventricular Fraction (LVEF) test |
Unknown |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
Unknown |
| Had muscle biopsy |
Unknown |
| Molecular Tests |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DUPLICATION OF EXONS 3-44 |
| Remarks |
Clinically affected; affected brother is GM23244; delayed motor development; frequent falls; diagnosed at 8 years of age; walks without assistance; currently on daily corticosteroids; also on Enalapril; donor subject has a duplication of exons 3-44 in the DMD gene |