Table 3.

Some data of 18 FSHD patients with non-typical onset.

Facial-sparinga: 7 cases
M/F	5/2
Present age	63 (range: 44–79)
Age at onset	39 (range: 22–59)
Signs of scapulo-humeral weakness	7/7
Eco RI fragment	36 kb (range: 32–38)
Lower limbs proximal weakness: 8 cases
M/F	0/8
Present age	59 (range: 34–78)
Age at onset	36 (range: 15–64)
Unilateral	0/8
Bilateral	8/8
Signs of scapulo-humeral weakness	8/8
Signs of facial weakness	8/8
Eco RI fragment (mean)	22 kb (range: 15–27)

Other types of onset (3 cases):	Case 1	Case 2	Case 3b
Apparent onset type:	Sural triceps weakness	Epilepsy and mental retardation	Myoglobinuria
Age at onset	21 years	Infancy	18 years
Scapulo-humeral weakness	−−−	++−	−−−
Facial weakness	−−−	+++	−−−
EcoRI	38 kb	11 kb	24 kb
Present age	43 years	42 years	41 years
cFSHD weakness scale
Present grade	I	IV	IV

^aPersistent “facial-sparing” phenotype during disease course.

^bIn this patient heterozygous CAPN3 mutation was associated with the 4q35 deletion.

^cAs previously described [18], the FSHD Weakness Scale ranges from 0 (no weakness) to VII (maximal weakness).