Čes-slov Pediat 2023, 78(4):206-209 | DOI: 10.55095/CSPediatrie2023/036

Spinal muscular atrophy in newbornCase Histories

Zuzana Kuderavá¹, Marek Kozár¹, Tomáš Jurko¹, Nina Lenhartová², Stanislava Suroviaková³, Mirko Zibolen¹

¹ Neonatologická klinika, Jesseniova lekárska fakulta v Martine, Univerzitná nemocnica Martin, Slovensko

² Oddelenie lekárskej genetiky, Jesseniova lekárska fakulta v Martine, Univerzitná nemocnica Martin, Slovensko

³ Klinika detí a dorastu, Jesseniova lekárska fakulta v Martine, Univerzitná nemocnica Martin, Slovensko

Spinal muscular atrophy (SMA) is an autosomal recessive inheritable neurodegenerative disease caused by mutation of the SMN1 gene encoding a protein essential for the survival of motoneurons of the anterior corners of the spinal cord and brainstem nuclei. The disease leads to progressive muscle weakness, skeletal muscle atrophy, and respiratory insufficiency, while sensory sensitivity and cognitiv e functions remain preserved. The disease is classified based on the age of onset of symptoms, the highest level of psychomotor development achieved, and expected life expectancy. The diagnostic standard is a molecular-genetic examination. In recent years, causal disease-modifying treatment has been introduced into clinical practice, thanks to which patients with SMA can reach higher motor milestones. A pilot study of neonatal screening for SMA was launched last year in Czech Republic and Slovakia, which can detect the disease in an asymptomatic stage. Early recognition and initiation of therapy leads t o significant improvement of prognosis and quality of life in patients. The collective of authors presents a case report of a newborn transferred to the Neonatology Clinic of the University Hospital in Martin, who was diagnosed with the most severe form of SMA type 0 with symptoms present since birth, with an inauspicious prognosis.

Keywords: newborn, hypotonus, spinal muscular atrophy, SMA type 0

Published: July 1, 2023  Show citation