Spinal Muscular Atrophies of Childhood
Recent clinical, regulatory, research and industry developments relating to this disease.
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes2
- Genetic Therapy1
- Survival of Motor Neuron 1 Protein1
Leading journals2
- Pediatric neurology1
- The New England journal of medicine1
Leading researchers8
- Al-Zaidy SA1
- Bennett CF1
- Bishop K1
- Chiriboga CA1
- Connolly AM1
- Darras BT1
- De Vivo DC1
- Farwell W1
Affiliations (unnormalised)2
- Nemours Children's Hospital1
- Ohio State University1
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
A group of recessive inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.