Presymptomatic risdiplam treatment in an infant with homozygous SMN1 deletion and two SMN2 copies: age-appropriate motor development at 6 months

Abstract Background Spinal muscular atrophy (SMA) is a progressive neuromuscular disorder caused by biallelic SMN1 deletion or mutation, leading to degeneration of anterior horn motor neurons. Newborn screening enables presymptomatic diagnosis, and timely initiation of disease-modifying therapy is a...

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Päätekijät:	Süleyman Şahin, Mehmet Alçı, Büşra Kaygusuz Aydemir, Fatma Sargın, Halil Çelik
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	SpringerOpen 2026-03-01
Sarja:	Egyptian Pediatric Association Gazette
Aiheet:	Spinal muscular atrophy newborn screening presymptomatic treatment risdiplam SMN2 copy number Infant
Linkit:	https://doi.org/10.1186/s43054-026-00526-3
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