Motor Outcomes to Validate Evaluations in FSHD (MOVE FSHD)

Trunk Function

There are no specific functional tasks designed to measure trunk function in FSHD so Investigators have chosen a practical task that will reflect changes in core truncal muscle groups. The ability to sit up and the timed supine to sitting test reflects core muscle strength and coordination.

Time frame: Baseline - 5 years

Hand Function

Hand function is captured by examining hand grip strength.

Time frame: Baseline - 5 years

Timed Up and Go (TUG)

Balance and mobility are assessed by using the Timed Up and Go (TUG), a standard outcome measure for the elderly that is also increasingly being used in neuromuscular disorders. Participants are asked to rise from a chair, walk 3 meters, turn 180 degrees and return to a seated position in the chair.

Time frame: Baseline - 5 years

Saliva Methylation

Investigators will isolate DNA from blood cells in saliva - and will determine the methylation levels in the 4q region on chromosome 4 using this new technique. Investigators will compare methylation levels between participants and compare to other clinical information collected in this study.

Time frame: Baseline (collected only once)

FSHD Clinical Severity Scores

A limited physical exam and strength testing will be used to derive two FSHD clinical severity scores. These severity scores both rank weakness in the face, shoulders, arms, distal, and proximal lower extremities on either a 10 or 15 point scale. The higher the severity score the more affected the individual.

Time frame: Baseline - 5 years

Patient-Reported Outcomes Measurement Information System-57 (PROMIS57)

The PROMIS57 is an instrument developed by the NIH which generates scores for physical function, and the impact of physical limitations on daily life. 57 questions are summed into a total score, which is transformed into a normalized t-score with 50 representing normal, and lower scores representing increasing disability.

Time frame: Baseline - 5 years

The Upper Extremity Functional Index

This index measures upper extremity dysfunction. 20 questions are combined into a total score, the score is transformed into a normalized score with 80 representing normal, and lower scores representing increasing disability.

Time frame: Baseline - 5 years

Exercise and Pain Assessment

An exercise and pain assessment questionnaire was comprised specifically for this study and will be completed at every visit.

Time frame: Baseline - 5 years

The Facial Disability Index (FDI)

The FDI is a short 5 item questionnaire. The five questions are summed into total score which transformed onto a percentage scale, with 100 representing normal, and lower scores representing increasing disability.

Time frame: Baseline - 5 years

FSHD Rasch-built overall disability scales (FSHD-RODS)

The FSHD-RODS is a questionnaire about the relationship between daily activities and health. 32 questions are are constructed using a modern clinimetric technique, the Rasch analysis, which by ordering the items in increasing difficulty, allows for the calculation of the sum of item scores to achieve a total score. Answers provide information about how FSHD affects daily and social activities and to what degree participants are able to perform usual activities.

Time frame: Baseline - 5 years

MIP/MEP and SNIP

For sites who routinely obtain negative inspiratory or expiratory force (MIP/MEP) will be collected.

Time frame: Baseline - 5 years

4 Stair Climb

Time to ascend and descend 4 standard stairs.

Time frame: Baseline - 5 years

Manual Muscle Testing (MMT)

For MMT a modified Medical Research Council 13-point scale will be used - with standardized positions for each muscle.

Time frame: Baseline - 5 years