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Disease

Spinal muscular atrophy, type 1

Also known as HMN (hereditary motor neuropathy) proximal type I, SMA type 1, SMA type I, SMA-I+20 more

HMN (hereditary motor neuropathy) proximal type I, SMA type 1, SMA type I, SMA-I, SMA1, SMNI, Werdnig Hoffmann disease, Werdnig-Hoffman disease, Werdnig-Hoffmann Disease, Werdnig-Hoffmann disease, hereditary motor neuropathy proximal type I, progressive muscular atrophy of infancy, severe infantile spinal muscular atrophy, spinal muscular atrophy-1, survival motor neuron spinal muscular atrophy, SMA, infantile acute form, muscular atrophy, infantile, proximal spinal muscular atrophy type 1, proximal spinal muscular atrophy, type 1, spinal muscular atrophy 1, spinal muscular atrophy, type I, infantile muscular atrophy, infantile spinal muscular atrophy, spinal muscular atrophies of childhood.

4
Associated genes
1
Related proteins

What's happening now

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

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Therapeutic landscape

Therapies with a regulatory footing for this condition, alongside the wider set of agents co-studied with it in the literature.

Approved & established therapies
Risdiplamapproved

Accelerated approval — Evrysdi is indicated for the treatment of 5q spinal muscular atrophy (SMA) in patients wi… (2021)

Onasemnogene abeparvovecapproved

Approval — Zolgensma is indicated for the treatment of: patients with 5q spinal muscular atrophy (S… (2020)

Regulatory timeline

Drug regulatory events matched to this condition by indication — EMA.

First approvals
2021emaAccelerated approval — Risdiplam· Evrysdi is indicated for the treatment of 5q spinal muscular atrophy (SMA) in patients with a clinical diagnosis of SMA Type 1, Type 2 or Type 3 or with one to four SMN2 copies.   source ↗
2020emaApproval — Onasemnogene abeparvovec· Zolgensma is indicated for the treatment of: patients with 5q spinal muscular atrophy (SMA) with a bi-allelic mutation in the SMN1 gene and a clinical diagnosis of SMA Type 1, or patients with 5q SMA with a bi-allelic mutation in the SMN1 gene and up to 3 copies of the SMN2 gene. source ↗

European Medicines Agency (CC BY 4.0). Events are matched to this condition by drug indication text — approvals/updates for drugs indicated for it, not disease-specific acts.

Associated genes

4 matches

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

SMN10.79SMN20.69NAIP0.37RTL30.00

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Survival motor neuron proteinvia SMN10.79

Reference

Authoritative identity, definition & identifiers.

Synonyms

HMN (hereditary motor neuropathy) proximal type I, SMA type 1, SMA type I, SMA-I, SMA1, SMNI, Werdnig Hoffmann disease, Werdnig-Hoffman disease, Werdnig-Hoffmann Disease, Werdnig-Hoffmann disease, hereditary motor neuropathy proximal type I, progressive muscular atrophy of infancy, severe infantile spinal muscular atrophy, spinal muscular atrophy-1, survival motor neuron spinal muscular atrophy, SMA, infantile acute form, muscular atrophy, infantile, proximal spinal muscular atrophy type 1, proximal spinal muscular atrophy, type 1, spinal muscular atrophy 1, spinal muscular atrophy, type I, infantile muscular atrophy, infantile spinal muscular atrophy, spinal muscular atrophies of childhood

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.