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Disease

Spinal Muscular Atrophies of Childhood

Emerging research
2
Publications
2019
Latest publication
Latest activity
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Recent clinical, regulatory, research and industry developments relating to this disease.

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An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.

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Research activity

2 papers

Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.

Publications over time
20172019
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

Reference

Authoritative identity, definition & identifiers.

Defined in MeSH

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)

References & data sources
  • 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.