Neonatal Spinal Muscular Atrophy: A Case Report
Pestana Magali Andrea*, Maria Lucia Martinez, Juan Manuel, Joaquin Pedre, Guadalupe Albornoz and Pedraza Ana Maria
Department of Neonatology, Suizo Argentina Clinic and Maternity - University of
Buenos Aires, Argentina
*Corresponding Author: Pestana Magali Andrea, Department of Neonatology, Suizo Argentina Clinic and Maternity - University of Buenos Aires, Argentina.
September 19, 2022; Published: October 08, 2022
Spinal muscular atrophy type 0 is a genetic condition and is the severest phenotype expression of the five types of SMA. Moreover, it affects patients from birth and is rapidly fatal within days to months. We describe a case of a patient who was born with axial hypotony, abolished of osteotendinous reflexes and Moro’s reflex, and lingual fasciculations but eye opening and movements were present and how we imagined that we were dealing with spinal muscular atrophy type 0 and how we promptly diagnosed this uncommon pathology. In this report we want to highlight the importance of knowing the most relevant characteristics of the disease and being capable of suspecting this condition during pregnancy and after birth. In addition, as physicians we should give proper palliative care and genetic counseling to the family.
Keywords: Neonatal; Hypotonia; Spinal Muscular Atrophy
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