UK Patient Registry for FSHD

Your condition

What is your diagnosis, according to your doctor?

If you are unsure of the diagnosis please speak to your doctor. They will also be able to arrange a genetic test if you have not yet had one.

FSHD 1

FSHD 2

FSHD (no number was given)

Other (please specify below)

I don't know

Other diagnosis

Which of these symptoms do you have?

Please select all that apply.

Facial weakness (weakness of muscles in the face causing e.g. inability to smile, to whistle, or to close your eyes fully at night)

Shoulder weakness (weakness of the muscles around the shoulder blades causing e.g. inability to raise your arms sideways above the level of your shoulder)

Foot weakness (weakness of the muscles that help you lift your feet up, causing e.g. foot drop (where the foot tends to hang with the toes pointing down), steppage gait (lifting the feet high when walking), or frequent tripping)

Hip girdle weakness (weakness of the muscles of the pelvis and top of the legs, causing e.g. difficulties in going up stairs or ladders, rising from a chair or getting up from the floor)

I have no signs or symptoms of muscle weakness

When did symptoms related to your FSHD first occur?

Please give a date for all symptoms you selected in the question “Which of these symptoms do you have?” above.

Facial weakness

Shoulder weakness

Foot weakness

Hip girdle weakness

Which of the following options describes the best motor function you are currently able to achieve?

Please select the most appropriate answer.

I can walk unaided (without an assistive device)

I can walk with an assistive device (walker, brace, cane, etc)

I cannot walk

Do you use a wheelchair?

Please select the most appropriate answer.

Yes, I use a wheelchair all the time

Yes, I use a wheelchair part-time

No, not at all

If yes, since when has this been the case?

Do you regularly use a non‐invasive ventilation device?

Yes, all day

Yes, but only part-time (e.g. at night)

If yes, since when has this been the case?

Do you regularly use an invasive ventilation device?

Yes, all day

Yes, but only part-time (e.g. at night)

If yes, since when has this been the case?

Have you been diagnosed with retinal vascular disease that your doctors think may be related to your FSHD?

Retinal vascular disease includes problems with the retina of your eye causing e.g. loss of vision.

Yes

I don’t know

If yes, when did the symptoms first occur?

Do you have hearing loss?

Yes

I don’t know

If yes, when did the symptoms first occur?

Have you had scapular fixation?

Scapular fixation is an operation to fix your shoulder blade to your ribcage.

Yes, both shoulders

Yes, one shoulder

When was your left shoulder operated?

When was your right shoulder operated?

Has anybody else in your family been diagnosed with FSHD?

Please select all that apply.

Yes, my mother

Yes, my father

Yes, one or several of my siblings (brothers and sisters)

Yes, further relatives (other than parents and siblings)

I don't know

How would you describe your ethnic origin?

White – European origin (Caucasian)

Black African/African American

Asian

Mixed

Other

I choose not to answer this question

Have you signed up for any other FSHD registry?

Yes (please specify below)

I don't know

Name of the registry