spinal muscular atrophy
Let an agent explain spinal muscular atrophy and its forms, relay genetics, diagnosis, treatment and care from neuromuscular guidelines in general terms, route affected people to specialists and patient organisations, and distinguish SMA from muscular dystrophies, amyotrophic lateral sclerosis and other motor neuron diseases.
Research draft, second pass
A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.
written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify
Researched by: Claude
Purpose and description
Let an agent explain spinal muscular atrophy and its forms, relay genetics, diagnosis, treatment and care from neuromuscular guidelines in general terms, route affected people to specialists and patient organisations, and distinguish SMA from muscular dystrophies, amyotrophic lateral sclerosis and other motor neuron diseases.
A group of genetic disorders in which motor neurons in the spinal cord anterior horn degenerate, causing progressive muscle weakness and wasting, most often the autosomal recessive form caused by survival motor neuron gene mutations and classified by onset from type 0 to type 4, alongside rarer forms such as X-linked SMA, distal hereditary motor neuropathies, SMA with progressive myoclonic epilepsy and regional variants such as the Ryukyuan type; disease-modifying treatments now exist, and affected families should be under specialist neuromuscular care.
What it is for: Not applicable; a disease group.
It can be explain forms and genetics; relay diagnosis and treatment; route to specialists; distinguish related diseases.
Distinguishing features
Motor neuron loss
Genetic causes
Onset-based types
Disease-modifying therapy
What it looks like
Not a visible object; progressive weakness, often from infancy.
Physical character
SMN1-related SMA incidence: about 1 in 10000 births
carrier frequency: about 1 in 50 ratio
first approved therapy: 2016 year - nusinersen
gene therapy approved: 2019 year - onasemnogene
How it is recognised
Anterior horn cell degeneration from genetic causes
SMN-related SMA types 0-4, X-linked SMA, distal hereditary motor neuropathy, SMA with myoclonic epilepsy, Ryukyuan type
Muscular dystrophies affect muscle itself; ALS is adult-onset and involves upper motor neurons
Related models
is a kind of - in registry terms
is a kind of - in general terms
is caused by - mutations in the common form
is contrasted with - a disease of muscle
In practice
Families and kinds
SMN-related SMA types 0 to 4
X-linked spinal muscular atrophy
distal hereditary motor neuropathies including autosomal dominant forms
SMA with progressive myoclonic epilepsy
regional forms such as the Ryukyuan type
other anterior horn cell diseases
Identifiers
ICD-10 G12 spinal muscular atrophy and related syndromes
MeSH D009134 Muscular Atrophy, Spinal
Standards and regulation
International standards of care for SMA
Newborn screening programmes in some countries
Orphan drug and gene therapy approvals
Failure modes and hazards
Delayed diagnosis
Agents giving personal medical advice
Stale treatment information
Also called
Where this came from
wikidata · CC0 1.0
Drafted structure
Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.
Understand What SMA is.
Clinical.
Definition
Definition and forms.
Definition
Definition.
- What is spinal muscular atrophy, and how do the SMN-related types and the rarer forms differ from dystrophies and ALS? definition
- Is the user asking about their own or a family member s diagnosis, which needs a specialist? boundary
Genetics
Genetics.
Genetics
Genetics.
- How do SMN1 and SMN2 and other genes cause SMA, and how is it inherited, in general terms? provenance
- Which entry fits the specific form? action
Care Diagnosis and treatment.
Clinical.
Diagnosis
Diagnosis and screening.
Diagnosis
Diagnosis.
- How is SMA diagnosed by genetic testing and newborn screening, as guidelines describe? provenance
- Which references are standard? provenance
Treatment
Treatment.
Treatment
Treatment.
- What treatments exist, including nusinersen, gene therapy and risdiplam, and what supportive care do standards recommend? provenance
- Which sources are cited? provenance
Support Living with SMA.
Application.
Daily
Daily care.
Daily
Daily.
- How do multidisciplinary care, respiratory and nutritional support and physiotherapy help, in general terms? provenance
- Which entry fits neuromuscular care? action
Organisations
Organisations.
Organisations
Organisations.
- Where can families find SMA organisations, registries and trials? action
- Which entry fits SMA patient organisations? action
Context Research and history.
Context.
Research
Research.
Research
Research.
- What research directions exist in SMA, with findings attributed? provenance
- Which entry fits gene therapy? action
History
History.
History
History.
- How was SMA described by Werdnig and Hoffmann, and how did the SMN gene discovery lead to therapy? provenance
- Which entry fits the history of neurology? action
What the second pass must settle
- Should the SMN-related types and X-linked SMA be separate primary entries?
- How should neuromuscular guidelines be linked?
- The registry entry has merged aliases naming distinct disorders; should they be split off?