Presented by

Dr. Khalid Ibrahim

pinal Muscular Atrophies are neurodegenerative disorders that are common in our region. In fact, they are the  second most common autosomal recessive disorder. The Incidence is 1 per 10000.

•Genetically: Defect in the Survival Motor Neuron (SMN) gene in chromosome 5q (1995).

•2 types of SMN. SMN1 and 2.

•95% of SMA patients have abnormality in SMN1.

•SMN2 is “protective”.

•The search for a cure had been a long journey.

•Promising therapeutic options have become available.

•Despite this progress, management of children/adults with SMA, faces some big challenges.

•The success of the management pathway relies heavily on “multidisciplinary” input and the experience of the providers of care.