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Article

Spinal Muscular Atrophy - Is Newborn Screening Too Late for Children with Two SMN2 Copies?

Journal of neuromuscular diseases - 1 Jan 2022

Schwartz Oliver, Kölbel Heike, Blaschek Astrid, Gläser Dieter, Burggraf Siegfried, Röschinger Wulf, Schara Ulrike, Müller-Felber Wolfgang, Vill Katharina

Abstract excerpt

BACKGROUND: Prompt treatment after genetic NBS for SMA substantially improves outcome in infantile SMA. However, deficiency of SMN-protein can cause damage of motor neurons even prior to birth. OBJECTIVE: To describe the neurological status at the time of NBS and the reversibility of neurological deficits in a cohort of patients with only two copies of the SMN2 gene. METHODS: We present motor, respiratory, and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35431259
DOI: 10.3233/JND-220789

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