Clinical and Genetic Study of Algerian Patients with Spinal Muscular Atrophy

Table 4

Phenotypic and genotypic analysis of the 6 SMA type I index patients with prolonged survival.

Phenotypic and genotypic analysis	N° 1	N° 2	N° 3	N° 4	N° 5	N° 6
Sex	F	M	M	M	M	M
Consanguinity	−	−	−	+	−	+
Age at onset (months)	4	2	4	6	4	Birth
Age at diagnosis (year)	4	5	5	3	2	2
Age at last information (months)	50	60	72	39	48	41
Lifting of head	+	+	+	+	−	−
Hypotonia and muscle weakness	+	+	+	+	+	+
Deep tendon reflexes	−	−	−	−	−	−
Fasciculations	−	−	+	−	+	−
Bulbar symptoms	+	+	+	+	+	−
Breathing difficulties	+	−	−	−	−	−
Frequent pneumonia	+	+	+	+	+	+
Age at death (months)	54	−	−	−	−	−
𝑆𝑀𝑁1 gene deletion	Yes	Yes	Yes	No	Yes	Yes
𝑁𝐴𝐼𝑃 gene deletion	Yes	No	No	No	No	No
𝑆𝑀𝑁2 copy number	2	2	3	−	3	3