الفهرس 
SPINAL MUSCULAR ATROPHY: PATHOPHYSIOLOGY, CLINICAL PICTURE AND GENETICSOnly 14 pages are availabe for public view
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Abstract
Background: Spinal Muscular Atrophy (SMA) is one of the most common congenital neurodegenerative diseases with prevelance of 1-2 per 100,000 persons and incidence of 1 per 10,000 live births for all SMA types combined. This year, fourteen Egyptian chromosome 5q-related SMA patients had the chance to receive the medication Nusinersen under governmental aid. That is a great opportunity as the most limiting factor of receiving any of the three FDA approved treatments for SMA is still the tremendous financial burden.
Objective: To compare the total quality of life of the first Egyptian patients receiving the therapy in Cairo and also observe the progression of the eight domains of the 36 short health survey questionnaire. This is to assess the subjective changes on individuals during the first six months from course of medication.
Methods: Prospective longitudinal Pilot study in which each patient’s quality of life is measured in a quantitative form before receiving Nusinersen intrathecal injections and compared to the results after two months and six months of receiving regular Nusinersen therapy according to the standard protocol of injection of the medication. Patients were recruited from Ain Shams University Hospitals within a period of 6 months and they received the intrathecal injections of Nusinersen therapy in Nasser Institute Hospital of Research.
Results: By using 36-short form health survey, there is a statistically significant increase in total quality of life (Qol) with continuous elevation between the first loading doses completed at two months and first maintenance dose at six months. In regards to our results, we assume that the treatment Nusinersen would be of benefit in increasing the quality of life of SMA patients.
Conclusion: Nusinersen showed rapid positive alteration in the quality of life of recipients improving not only the motor functions of patients but rather enhancing many other aspects of their lives such as energy levels, pain during daily activities, social functioning and role limitations. This leads to an overall improvement of their quality of life in a statistically significant manner only in a relatively short period of time.