Demographic Data |
Relation to Proband |
proband |
Age at Sampling |
34 YR |
Sex |
Male |
Racial Category |
White |
|
Data Elements |
Clinical Element Type: Duchenne Muscular Dystrophy |
(Baseline) |
Diagnosis |
Muscle Pain with increased activity or exercise |
No Data |
Age at Diagnosis (in years) |
6 |
Age at first symptom or medical concern |
No Data |
Relative with similar muscle disease |
No |
If yes, give their relationship(s) to you |
No Data |
Skeletal/Mobility |
Scoliosis |
No |
Broken bones due to DMD |
Yes |
If yes, broke: |
ARMS AND LEGS |
Delays in motor development was initially recognized |
Unknown |
Toe Walking initially recognized |
Unknown |
Enlarged calves initially recognized |
Unknown |
Walking |
No |
If yes, type of walking device |
No Data |
Mobility device ie stroller, wheelchair |
Yes |
If yes, age at the start of use |
9 YR WHEELCHAIR |
Stand without aid |
No |
Sit without aid |
No |
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 |
Yes |
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 |
Yes |
Cardiac MRI |
No |
Echocardiogram |
Yes |
Holter monitor |
No |
Taken the Left Ventricular Fraction (LVEF) test |
No |
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 |
Unknown |
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 |
DUP OF EXON 17 |
Testing method used |
No Data |
Remarks |
Clinicaly affected; diagnosed at 6 years of age; wheelchair-dependent as of 9 years of age; diagnosed with heart problem; on Losartin and Carvedilol; previously broken legs and arms; donor subject has a duplication of exon 17 in the DMD gene |