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

Background 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. Objectives To register patients with SMA who are diagnosed clinically and genetically (typical and atypical forms) in a tertiary care unit in Egypt. Patient and methods 80 Patients with SMA who are diagnosed clinically and genetically at Neuromuscular Unit of Ain Shams University Hospital were registered. Demographical data and genetics of the patients were collected and analyzed. The patients were assessed for skeletal deformities, cardiac evaluation by echo and pulmonary evaluation by PFTs (for patients above 5 years old) and functional assessment by motor scales according to age and type of each patient was done. Results SMA was more common in males with predominance of type II and median age of 4.5 years old, a considerable number of cases had positive history of consanguinity and similar cases in family, 98.8% of cases had the typical form of SMA with homozygous deletion of SMN1 gene with variable SMN2 copy number according to type. 32.5% of cases had skeletal deformities in the form of scoliosis with or without kyphosis, extremities contractures and chest cave deformities. 4 cases had restrictive pattern due to scoliosis cardiac abnormalities were detected in 3 cases of type I. 31 cases were assessed by CHOP INTEND and 49 cases were assessed by HFMSE giving a good tool for assessing disease progress and role of physiotherapy. Severe chest infection and respiratory failure was the cause of death of 3 cases of type I during the period of study. Conclusion registry of SMA patients will lead to a better understanding of the natural history of SMA and the influence of drug treatment. This is crucial to improve the care of SMA patients.