期刊
NEUROMUSCULAR DISORDERS
卷 26, 期 9, 页码 551-559出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2016.06.459
关键词
Spinal muscular atrophy; Genetic screening; Therapy
资金
- Canadian Institutes of Health Research (CIHR) [MOP-130279, ERL-138414, MOP-136898, MOP-142316]
- Natural Sciences and Engineering Research Council of Canada (NSERC) [RGPIN-2014-04810]
- Cancer Research Society (Canada) [19363]
- CIHR
- Muscular Dystrophy Association (USA) [294568]
- Cure SMA/Families of SMA Canada [KOT1617]
- Multiple Sclerosis Society of Canada [EGID2098]
- Queen Elizabeth II Graduate Scholarship in Science and Technology from the Government of Ontario
- University Health Research Chair from the University of Ottawa
Spinal muscular atrophy (SMA) is the most common genetically inherited neurodegenerative disease that leads to infant mortality worldwide. SMA is caused by genetic deletion or mutation in the survival of motor neuron 1 (SMN1) gene, which results in a deficiency in SMN protein. For reasons that are still unclear, SMN protein deficiency predominantly affects alpha-motor neurons, resulting in their degeneration and subsequent paralysis of limb and trunk muscles, progressing to death in severe cases. Emerging evidence suggests that SMN protein deficiency also affects the heart, autonomic nervous system, skeletal muscle, liver, pancreas and perhaps many other organs. Currently, there is no cure for SMA. Patient treatment includes respiratory care, physiotherapy, and nutritional management, which can somewhat ameliorate disease symptoms and increase life span. Fortunately, several novel therapies have advanced to human clinical trials. However, data from studies in animal models of SMA indicate that the greatest therapeutic benefit is achieved through initiating treatment as early as possible, before widespread loss of motor neurons has occurred. In this review, we discuss the merit of carrier and perinatal patient screening for SMA considering the efficacy of emerging therapeutics and the physical, emotional and financial burden of the disease on affected families and society. (C) 2016 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license
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