Spinal muscular atrophy: reality and future in Ukraine | Український Медичний Часопис

Shatillo A.V.,Matyushenko V.M.

Головна
Публікації
Spinal muscular atrophy: reality and future in Ukraine

Spinal muscular atrophy: reality and future in Ukraine

3 березня 2020

830

Neurology and Psychiatry

Shatillo A.V.

Matyushenko V.M.

Ключові слова :

motor limitations,

spinal muscular atrophy,

spinal muscular atrophy registry

Спеціальності :

Neurology and Psychiatry

Резюме

The aim was to clarify peculiarities of spinal muscular atrophy (SMA) natural history in Ukraine and peculiarities, which are caused by medical management. Objective of the study. The research has been done on the analysis of 267 SMA patients’ records, among them were 69 patients of type I, 168 — II and 30 — III. Source of these records was Ukrainian spinal muscular atrophy registry, which is ran by Kharkiv Charitable foundation «Children with spinal muscular atrophy». Results. Such indexes as time to diagnosis, motor functional limitations, the severity of respiratory abnormalities and equipment availability were calculated. Assessments of disease progression speed, lifespan and mortality in different SMA types have been done. Conclusion. The registries are an important source of data for epidemiological and pharmaco-economic researches and a valuable tool for improvement of healthcare. Indexes, mentioned above, despite of positive dynamics, are unacceptable, and their improvement requires organizational and financial investments.

References:

Bladen C.L., Thompson R., Jackson J.M. et al. (2014) Mapping the differences in care for 5,000 spinal muscular atrophy patients, a survey of 24 national registries in North America, Australasia and Europe. J. Neurol., 261(1): 152–163. doi: 10.1007/s00415-013-7154-1.
Chabanon A., Seferian A.M., Daron A. et al.; NatHis-SMA study group (2018) Prospective and longitudinal natural history study of patients with Type 2 and 3 spinal muscular atrophy: Baseline data NatHis-SMA study. PLoS One, 13(7): e0201004. doi: 10.1371/journal.pone.0201004.
Farrar M.A., Vucic S., Johnston H.M. et al. (2013) Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J. Pediatr., 162(1): 155–159. doi: 10.1016/j.jpeds.2012.05.067.
Finkel R.S., McDermott M.P., Kaufmann P. et al. (2014) Observational study of spinal muscular atrophy type I and implications for clinical trials. Neurology, 83(9): 810–817. doi: 10.1212/WNL.0000000000000741.
Finkel R.S., Mercuri E., Meyer O.H. et al.; SMA Care group (2018) Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul. Disord., 28(3): 197–207. doi: 10.1016/j.nmd.2017.11.004.
Kim J.K., Jha N.N., Feng Z. et al. (2020) Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models. J. Clin. Invest., pii: 131989. doi: 10.1172/JCI131989.
Kolb S.J., Coffey C.S., Yankey J.W. et al.; NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators (2017) Natural history of infantile-onset spinal muscular atrophy. Ann. Neurol., 82(6): 883–891. doi: 10.1002/ana.25101.
Mercuri E., Finkel R.S., Muntoni F. et al.; SMA Care Group (2018) Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul. Disord., 28(2): 103–115. doi: 10.1016/j.nmd.2017.11.005.
Oskoui M., Levy G., Garland C.J. et al. (2007) The changing natural history of spinal muscular atrophy type 1. Neurology, 69(20): 1931–1936.
Szunyogova E., Zhou H., Maxwell G.K. et al. (2016) Survival Motor Neuron (SMN) protein is required for normal mouse liver development. Sci. Rep., 6: 34635. doi: 10.1038/srep34635.
Wijngaarde C.A., Blank A.C., Stam M. et al. (2017) Cardiac pathology in spinal muscular atrophy: a systematic review. Orphanet. J. Rare Dis., 12(1): 67. doi: 10.1186/s13023-017-0613-5.