| Demographic Data |
| Relation to Proband |
brother |
| Sex |
Male |
| |
| Data Elements |
| Clinical Element Type: Duchenne Muscular Dystrophy |
| (Baseline) |
| Diagnosis |
| Muscle Pain with increased activity or exercise |
No |
| Age at Diagnosis (in years) |
1 |
| Age at first symptom or medical concern |
1 YR |
| Relative with similar muscle disease |
Yes |
| If yes, give their relationship(s) to you |
No Data |
| Skeletal/Mobility |
| Scoliosis |
No |
| Broken bones due to DMD |
Yes |
| If yes, broke: |
LEGS |
| Delays in motor development was initially recognized |
No |
| Toe Walking initially recognized |
No |
| Enlarged calves initially recognized |
No |
| Walking |
Yes |
| If yes, type of walking device |
No Data |
| Mobility device ie stroller, wheelchair |
No |
| If yes, age at the start of use |
No Data |
| Stand without aid |
Yes |
| Sit without aid |
Yes |
| Neurologic |
| Problem controlling behavior |
No |
| Learning disability |
No |
| Treatment |
| Use of corticosteroids |
No |
| If yes, list those you are currently taking |
No Data |
| What is the current dosage of medication(s) |
No Data |
| Use of alternative therapies |
No |
| Type of breathing device used, if any |
No Data |
| Taking heart medication |
No |
| Tendon release surgery |
No |
| If yes, give location at which surgery was performed |
No Data |
| Laboratory Tests |
| Taken the Forced Vital Capacity (FVC%) test |
No |
| Date of the most recent FVC Test |
No Data |
| Percent value from the most recent FVC Test |
No Data |
| Cardiomyopathy |
No |
| Cardiac MRI |
No |
| Echocardiogram |
Yes |
| Holter monitor |
No |
| Taken the Left Ventricular Fraction (LVEF) test |
Yes |
| Percent value from the most recent LVEF Test |
No Data |
| Taken the Left Ventricular Shortening Fraction (LVSF) test |
Yes |
| Percent value from the most recent LVSF Test |
No Data |
| Had muscle biopsy |
No |
| Immunohistochemistry: N-terminus |
No Data |
| Immunohistochemistry: C-terminus |
No Data |
| Immunohistochemistry: Rod domain |
No Data |
| Molecular Tests |
| Immunblot/Western blot: Quantity (%) |
No Data |
| Immunblot/Western blot: Molecular size |
No Data |
| Immunblot/Western blot: Dystrophic changes |
No Data |
| Genetic test performed |
Yes |
| If yes, list identified mutation |
DEL OF EXONS 35-43 |
| Testing method used |
No Data |
| Remarks |
Clinically affected; affected brother is GM23095; diagnosed at one year of age; elevated liver enzymes; delayed language development; walks without mobility devices; previously broken legs; donor subject has a deletion of exons 35-43 in the DMD gene |