Table 1.

Clinical characteristics of SMA patients

ID	Age	Gender	SMA type	SMN1 mutation	SMN2 copies	Ambula-tory	CHOP-INTEND (max. 64)	HFSME (max. 66)	RULM (max. 37)
SMA001	2 m	M	PRE	Hom. Δ7/8	4	No	59		–
SMA002	4 m	M	PRE	Hom. Δ7/8	4	No	54	–	–
SMA003	7 m	F	PRE	Hom. Δ7/8	5	No	64	–	–
SMA004	1y 2 m	F	PRE	Hom. Δ7/8	5	No	–	–	–
SMA005	3 m	F	PRE	Hom. Δ7, Het. Δ8	4	No	62	–	–
SMA006	2 m	F	1	Hom. Δ7/8	2	No	22	–	–
SMA007	4 m	F	1	Hom. Δ7/8	2	No	22	–	–
SMA008	3 m	M	1	Hom. Δ7/8	2	No	13	–	–
SMA009	5 m	M	1	Het. Δ7/8, (c.46delG)	2	No	20	–	–
SMA010	5 m	M	1	Hom. Δ7	2	No	28	–	–
SMA011	9 m	M	1	Hom. Δ7/8	3	No	32	–	–
SMA012	14y	F	1	Hom. Δ7/8	2	No	18	–	1
SMA013	16y 10 m	F	1	Hom. Δ7/8	3	No	10	–	5
SMA014	5y 5 m	F	1	Hom. Δ7	3	No	–	–	–
SMA015	1y 2 m	F	2	Hom. Δ7	3	No	–	10	–
SMA016	1y 5 m	M	2	Hom. Δ7/8	3	No	44	–	–
SMA017	2y 6 m	F	2	Hom. Δ7/8	3	No	59	12	–
SMA018	9y	M	2	Hom. Δ7/8	3	No	26	–	6
SMA019	14y 8 m	M	2	Hom. Δ7	3	No	–	7	21
SMA020	17y 8 m	F	2	Hom. Δ7/8	3	No	–	17	25
SMA021	18y	M	2	Hom. Δ7/8	3	No	–	0	6
SMA022	18y 11 m	F	2	Hom. Δ7/8	3	No	–	2	15
SMA023	3y 2 m	F	3a	Hom. Δ7/8	3	Yes	–	36	11
SMA024	8y 3 m	F	3a	Hom. Δ7/8	3	No	–	–	–
SMA025	8y 9 m	F	3a	Hom. Δ7/8	3	No	–	22	21
SMA026	12y 8 m	F	3a	Hom. Δ7/8	3	No	–	31	23
SMA027	3y 5 m	M	3b	Hom. Δ7, Het. Δ8	2	Yes	–	50	20
SMA028	4y 4 m	M	3b	Hom. Δ7/8	4	Yes	–	44	21
SMA029	14y 1 m	F	3b	Hom. Δ7/8	4	Yes	–	54	33

CHOP-INTEND, Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders; Δ/del, deletion; F, female; het, heterozygous; HFSME, Hammersmith Functional Motor Scale Expanded; hom, homozygous; M, male; m, months; PRE, pre-symptomatic; RULM, Revised Upper Limb Module; SMA, spinal muscular atrophy; y, years