Table 1

Clinical features and data of ancillary investigations of six patients with FSHD

Patient	Age/sex	Presenting symptoms	Presenting signs	Age at onset (y)	Progression	CK	CT	EMG	Muscle biopsy	EcoRI fragment size (kb)
1	32M	E^1-150 drop foot	FS^1-150E^1-150	30	m	2.5×	T^1-150E^1-150C^1-150	N	NP	30
2	57F	T: walking difficulty	FSHTC^1-150	50	m	1.2×	HTC^1-150	N	N	26
3	55M	C: inability to walk on toes	FS^1-150T^1-150C	50	m	NI	S^1-150T^1-150C^1-150	M	NP	20
4	80M	E^1-150: drop foot	S^1-150H^1-150E^1-150	75	m	2.5×	NP	NP	NP	38
5	65M	E: drop feet	FS^1-150H^1-150E^1-150	64	m	3.5×	S^1-150H^1-150CE^1-150	M	NP	33
6	40F	S^1-150: shoulder pain	S^1-150H^1-150	36	m	NI	NP	M	NP	38

↵1-150 Asymmetric; E=foot extensors; F=facial; S=shoulder; T=thigh; H=hip; C=calf; NP=not performed; NI=not increased; m=mild; M=myopathic (short duration MUAPs); N=neurogenic (fibrillations, positive sharp waves, long duration MUAPs).