Registry of Patients with Spinal Muscular Atrophy in a Tertiary Care Unit in Egypt

Abstract

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease characterized by degeneration of alpha motor neurons in the spinal cord, resulting in progressive proximal muscle weakness and paralysis. The clinical classification of typical form of SMA is dependent upon age of onset and maximal level of motor function achieved. Patients with SMA type I (SMA-I) are infants diagnosed usually by 6 months of age who never achieve independent sitting. Those with SMA type II (SMA-II) present usually between six and eighteen months of age and achieve sitting but never walk independently. Those who achieve independent ambulation have either SMA type III (SMA-III), presenting usually after eighteen months of age, or SMA type IV (SMA-IV), which presents after age 30 years (Montes et al., 2009).