Obtain Consent
|
X
| | | | |
Confirm Eligibility
|
X
| | | | |
Urine Pregnancy Testa
|
X
| |
X
|
X
|
X
|
History and Physical Exam
|
X
| |
X
|
X
|
X
|
Blood for FSHD DNA Testing
|
X
| |
X
| | |
Blood for Serum Extraction
|
X
| |
X
|
X
|
X
|
Blood for RNA (PAX gene tube)
|
X
| |
X
| | |
Blood for Plasma (EDTA tube)
|
X
| |
X
|
X
|
X
|
PROs: FSHD-HI, PROMIS57, UEFI, and FDI physical score
|
X
| |
X
| |
X
|
Electrical Impedance Myography
|
X
|
X
|
X
|
X
|
X
|
FSHD-COM / MFM Domain 1
|
X
|
X
|
X
|
X
|
X
|
Strength Testing: QMT and MMT
|
X
| |
X
|
X
|
X
|
Bedside spirometry
|
X
| |
X
|
X
|
X
|
DEXA
|
X
| | |
X
| |
Clinical Severity Scores
|
X
| |
X
|
X
|
X
|
Iowa Oral Performance Instrument
|
X
|
X
|
X
|
X
|
X
|
Reachable Workspace
|
X
|
X
|
X
|
X
|
X
|
Fall/Exercise Questionnaire
|
X
| |
X
|
X
|
X
|
Fall Assessmentb
| | |
X
| | |
“Domain-delta” questionnaire
| | |
X
|
X
| |