. 2021 Oct 7;11:19922. doi: 10.1038/s41598-021-99496-2

Table 2.

SMN2 copy number and polymorphisms, treatment, and evolution of symptoms of SMA patients identified during the study period.

Id	Sex	SMN2 copy number	SMN2 polymorphism		Treatment	Treatment initiation in days	Phenotype at treatment start	Sitter (in months)	Walker (in months)	Age at last assessment (in months)	Max score on CHOP-INTEND scale^c	Max score on HINE 2 scale^d
Id	Sex	SMN2 copy number	c.859G > C	c.835‐44A > G	Treatment	Treatment initiation in days	Phenotype at treatment start	Sitter (in months)	Walker (in months)	Age at last assessment (in months)	Max score on CHOP-INTEND scale^c	Max score on HINE 2 scale^d
1	M	3	Negative	Negative	Nusinersen	32	Asymptomatic	7	13	33	64	26
2	F	2	Negative	Negative	Nusinersen	38	Areflexia, discrete hypotonia,	7	27 with help	32	58	24
3	M	3	Negative	Negative	OA^b	41	Asymptomatic	7	15	24	64	24
4	M	2	/	/	OA^b	54	Discrete hypotonia	6,5	Stand up alone	22	51	20
5	M	4	Negative	Negative	Nusinersen	49	Asymptomatic	6	12	22	64	–
6	F	4	Negative	Negative	Risdiplam	39	Asymptomatic	5	12	20	64	26
7	M	2	Negative	Negative	Nusinersen	29	Areflexia	6	No	18	60	17
8	M	2	Negative	Negative	Nusinersen	32	Areflexia	6	No	14	54	–
9	F	3	Negative	Negative	Nusinersen	30	Asymptomatic	7	11	12	62	21
10^a	M	2	/	/	Nusinersen	150	Proximal hypotonia, areflexia, tongue fasciculations	No	No	17	34	2

^aCompound heterozygous patient identified at the age of 4 months.

^bOnasemnogene abeparvovec-xioi.

^cCHOP-INTEND maximum score is 64.

^dHINE Sect. “Results” maximum score is 26.

A dash indicates that the test was not given.