Initial clinical manifestations and premorbid features of various phenotypic variants (II, III) of spinal muscular atrophy
https://doi.org/10.25789/YMJ.2019.2020.69.05
Abstract
The initial symptoms and premorbid features of children with spinal muscular atrophies (SMA) types II and III were under study. In studying the anamnesis of life and disease, attention was paid to premorbid features in the clinical and neurological status of early childhood. The concomitant neurological symptoms were studied. Careful assessment of family history, clarification of manifestations, rate of progression and interpretation of motor disorders in the debut of the disease are leading factors in early clinical diagnosis of SMA, that allow consider the further development of motor symptoms and complications that aggravate condition of a sick child and affect the vital prognosis.
About the Author
M. R. Shaimurzin
Republican Clinical Center for Neurorehabilitation
Ukraine
Ukraine
SHAIMURZIN Mark Rafisovich – Candidate of Medical Sciences, Head of the Polyclinic and Diagnostic Department, a doctor of the highest category in pediatric neurology and functional diagnostics
Author ID: 1040319
Donetsk People's Republic, 83062, Donetsk, Ilyich Avenue, 80-a
References
1. Zabnenkova V.V. Proximal spinal muscular atrophy of types I – IV: features of molecular genetic diagnosis / V.V. Zabnenkova // Neuromuscular disease. – 2013. - №3. – P. 27-31.
2. A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy / K.J. Krosschell, J.A. Maczulski, T.O. Crawford [et al.] //Neuromuscular Disorders. – 2006. -№16 (7). –P. 417-426.
3. Associations between psychological factors and health-related quality of life and global quality of life in patients with ALS: a systematic review / A.C. Van Groenestijn, E.T., Kruitwagen-van Reenen, J.M. Visser-Meily [et al.] // Health Qual Life Outcomes. – 2016. - №14 (1). – P.107.
4. Dubowitz V. Spinal Muscular Atrophy Revisited //Neuromuscul. Disord. - 2019. - № 29 (6). – P. 413-414.
5. Pilot study of population-based newborn screening for spinal muscular atrophy in New York state / J.N. Kraszewski, D.M. Kay, C.F. Stevens [et al.] // Genet Med. - 2018. - № 20 (6). – P. 608-613.
6. Serra-Juhe C. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors / C. Serra-Juhe, F. Eduardo, E.F. Tizzano //European Journal of Human Genetics. - 2019. - №27. – P. 1774–1782.
7. Survival of patients with spinal muscular atrophy type I / C. Greggoretti, G. Ottonello, T. Chiarini [et al.] //Pediatrics. - 2013. - №131:е1509-14.
8. Ross L.F. Spinal Muscular Atrophy: Past, Present, and Future / L.F. Ross, J.M. Kwon //Neoreviews. – 2019. - №20 (8):e437-e451.
9. Vaidya S. Measuring quality of life in children with spinal muscular atrophy: a systematic literature review / S. Vaidya, S. Boes //Qual. Life Res. - 2018. - №27 (12). - P. 3087-3094.
Review
For citations:
Shaimurzin M.R. Initial clinical manifestations and premorbid features of various phenotypic variants (II, III) of spinal muscular atrophy. Yakut Medical Journal. 2020;(1):24-26. https://doi.org/10.25789/YMJ.2019.2020.69.05
Views:
8
Email this article 