ORPHA:83420
Proximal spinal muscular atrophy type 4
Also known as: SMA type 4 · SMA type IV · SMA-IV · SMA4 · Spinal muscular atrophy, adult form
Publications
491
87.5th percentile
Trials
2
Interventional, condition-specific
Researchers
1,545
Distinct authors in sample
Gene link
SMN1
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic motor neuron disorder characterized by degeneration of alpha motor neurons in the spinal cord and lower brainstem. Proximal spinal muscular atrophy (SMA) type 4 is a rare subtype which manifests after 18 years of age with mild proximal muscle weakness.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010056
- MeSH:C563948
- OMIM:271150
- UMLS:C1838230
Additional Mondo synonyms (4)
spinal muscular atrophy of adults · spinal muscular atrophy, adult form · spinal muscular atrophy, type IV · spinal muscular atrophy-4
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SMN1
- LiteraturePresent
491 matched papers (378 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPresent
2 matched on ClinicalTrials.gov
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SMN1).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
491
491 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
491 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
378 in the last 10 years · medium confidence · 87.5th percentile (publications denominator)
Phrase hits: 491 · MeSH hits: 2
Who's working on it?
1,545
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Cintas P4 papers · 2025
Service de Neurologie, CHU de Toulouse Purpan, Place du Docteur Baylac TSA 40031, 8. Centre de Référence des Maladies Neuromusculaires AOC, 31059, Toulouse Cedex 9, France.
Papers in Europe PMC - 02
- 03Mercuri E4 papers · 2025
Child Psychiatry Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.
Papers in Europe PMC - 04Nishio H4 papers · 2025
Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan.
Papers in Europe PMC - 05Pane M4 papers · 2025
Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.
Papers in Europe PMC - 06Petri S4 papers · 2025
Department of Neurology, Hannover Medical School, 30625, Hannover, Germany.
Papers in Europe PMC - 07Saito T4 papers · 2025
Department of Neurology, National Hospital Organization Osaka Toneyama Medical Center, 5-1-1 Toneyama, Toyonaka 560-8552, Japan.
Papers in Europe PMC - 08Takeshima Y4 papers · 2025
Department of Pediatrics, Hyogo Medical University, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan.
Papers in Europe PMC - 09Uzelac Z4 papers · 2025
Department of Neurology, University of Ulm, Ulm, Germany.
Papers in Europe PMC - 10van der Pol WL4 papers · 2026
Department of Neurology and Neurosurgery, UMC Utrecht Brain Center, University Medical Center Utrecht, 3584 CX Utrecht, the Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
medium confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Broader category: proximal spinal muscular atrophy
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Spinal muscular atrophy as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Proximal spinal muscular atrophy type 4" OR "SMA type 4" OR "SMA type IV" OR "SMA-IV" OR "Spinal muscular atrophy, adult form" OR "spinal muscular atrophy of adults" OR "spinal muscular atrophy of the adults" OR "spinal muscular atrophy, type IV" OR "spinal muscular atrophy-4"
MeSH descriptor terms unioned into the query: Spinal Muscular Atrophy, Type IV
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Proximal spinal muscular atrophy type 4" OR "SMA type 4" OR "SMA type IV" OR "SMA-IV" OR "Spinal muscular atrophy, adult form" OR "spinal muscular atrophy of adults" OR "spinal muscular atrophy of the adults" OR "spinal muscular atrophy, type IV" OR "spinal muscular atrophy-4" OR "SMN1"
Recall-expansion terms: SMN1
Interventional trials matched via: phrase, recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"proximal spinal muscular atrophy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: SMA4
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T02:35:28.206Z