Table 3.

Clinical summary of participants reporting a diagnosis of FSHD1 in the UK FSHD patient registry

	FSHD 1 (n = 463a)	Genetically confirmed (n = 298)	% of genetically confirmed reporting symptom (%)
Hearing loss
Yes/no (unknown)	80/345 (38)	54/222 (22)	18.12
Retinal vascular diseaseb
Yes/no (unknown)	10/371 (65)	9/230 (59)	3.02
Current motor function
Ambulant	211	143	47.99
Ambulant with assistance	171	112	37.58
Non-ambulant	81	43	14.43
Wheelchair use
Full-time	82	45	15.10
Part-time	103	65	21.82
None	278	188	63.09
Facial weakness	347	214	71.81
Scapular weakness	428	270	90.60
Hip girdle weakness	346	214	71.81
Foot drop	341	215	72.15

^a12 records excluded for missing or incomplete patient reported data

^bAn additional 17 participants did not respond to the question about retinal vascular disease n = 446