Journal of Neurodegenerative Diseases / 2013 / Article / Tab 4

Clinical Study

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 analysisN° 1N° 2N° 3N° 4N° 5N° 6

SexFMMMMM
Consanguinity++
Age at onset (months)42464Birth
Age at diagnosis (year)455322
Age at last information (months)50 60723948 41
Lifting of head ++++
Hypotonia and muscle weakness++++++
Deep tendon reflexes
Fasciculations++
Bulbar symptoms+++++
Breathing difficulties +
Frequent pneumonia++++++
Age at death (months)54
gene deletionYesYesYesNoYesYes
gene deletionYesNoNoNoNoNo
copy number22333