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ORPHA:83420

Proximal spinal muscular atrophy type 4

low confidenceSubtype of disorder

Also known as: SMA type 4 · SMA type IV · SMA-IV · SMA4 · Spinal muscular atrophy, adult form

Publications

9,456

Trials

1

Interventional, condition-specific

Researchers

1,545

Distinct authors in sample

Gene link

SMN1

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Strong — SMN1

  2. LiteraturePresent

    9,456 matched papers (6,115 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. EMG: neuropathic changes; Hand tremor; Centrally nucleated skeletal muscle fibers) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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)

17

Associated phenotypes · MONDO:0010056

  • EMG: neuropathic changes
  • Hand tremor
  • Centrally nucleated skeletal muscle fibers
  • Degeneration of anterior horn cells
  • Quadriceps muscle atrophy

Showing 5 of 17 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

9,456

9,456 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

9,456 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

6,115 in the last 10 years · low confidence

Phrase hits: 491 · MeSH hits: 2

Open Europe PMC search

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.

  1. 01
    Cintas 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
  2. 02
    Dorst J4 papers · 2025

    Department of Neurology, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  3. 03
    Mercuri E4 papers · 2025

    Child Psychiatry Unit, Fondazione Policlinico Universitario IRCCS "A. Gemelli", Roma, Italy.

    Papers in Europe PMC
  4. 04
    Nishio H4 papers · 2025

    Faculty of Rehabilitation, Kobe Gakuin University, 518 Arise, Ikawadani-cho, Nishi-ku, Kobe 651-2180, Japan.

    Papers in Europe PMC
  5. 05
    Pane M4 papers · 2025

    Centro Clinico Nemo, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Rome, Italy.

    Papers in Europe PMC
  6. 06
    Petri S4 papers · 2025

    Department of Neurology, Hannover Medical School, 30625, Hannover, Germany.

    Papers in Europe PMC
  7. 07
    Saito 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
  8. 08
    Takeshima Y4 papers · 2025

    Department of Pediatrics, Hyogo Medical University, 1-1 Mukogawacho, Nishinomiya 663-8501, Japan.

    Papers in Europe PMC
  9. 09
    Uzelac Z4 papers · 2025

    Department of Neurology, University of Ulm, Ulm, Germany.

    Papers in Europe PMC
  10. 10
    van 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?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (12)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Proximal spinal muscular atrophy type 4 — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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") OR (MESH:"Spinal Muscular Atrophy, Type IV") OR ("SMN1" OR "SMN1 syndrome" OR "SMN1-related")

Run this search on Europe PMC

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"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 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; with hits: phrase, mesh

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
  • Publication count (9456) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T02:35:28.206Z