A rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic fa...
Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Helpful links for rare disease information and support
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Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 13, 2026
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
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Organizations with approved therapies for this disease
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AI-curated news mentioning infantile-onset X-linked spinal muscular atrophy
Updated Feb 20, 2026
A multicenter case series investigates the effects of risdiplam treatment following onasemnogene abeparvovec in individuals with spinal muscular atrophy. The study provides insights into treatment sequencing for this rare disease.
The 'Omirge Sen' Foundation launched a video campaign for Rare Disease Day 2026 to raise awareness about hereditary neuromuscular diseases, including Duchenne muscular dystrophy and spinal muscular atrophy. This initiative highlights the stories of affected families and aims to support those impacted by these conditions.
The 'Omirge Sen' Foundation launched a video for Rare Disease Day 2026 to raise awareness about hereditary neuromuscular diseases, including Duchenne muscular dystrophy and spinal muscular atrophy. This initiative highlights the stories of families affected by these conditions.
The DySMA trial investigates swallowing development in infants and toddlers with spinal muscular atrophy compared to healthy controls. This prospective study provides insights into the impact of therapy on swallowing abilities in affected children.
A recent study published in PubMed details the clinical diagnosis and genetic analysis of a rare case involving both Duchenne muscular dystrophy and spinal muscular atrophy. This research contributes to the understanding of these conditions and may inform future diagnostic and therapeutic approaches.