Case Report: Presymptomatic risdiplam in preterm monozygotic twins with co-occurring spinal muscular atrophy and tuberous sclerosis complex.

Presymptomatic risdiplam led to significant motor improvements in preterm monozygotic twins with co-occurring SMA and TSC, marking the first such case report.

• Why it matters: Understanding treatment options for infants with complex genetic disorders like SMA and TSC is limited, especially in preterm populations, highlighting a critical gap in clinical knowledge and management.
• What they did: Researchers treated genetically confirmed SMA and TSC in preterm twins with risdiplam starting at 38+5 weeks gestation, monitoring motor development and safety over one year.
• The result: Both twins showed notable motor gains, tolerated risdiplam well without adverse events, and the case underscores the potential benefits of early genetic diagnosis and intervention in complex cases.