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ORPHA:454706

Progressive muscular atrophy

low confidenceDisorder

Also known as: PMA

Publications

2,800

Trials

3

Interventional, condition-specific

Researchers

1,265

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare motor neuron disease characterized by isolated lower motor neuron features, including flaccid weakness, muscle atrophy, fasciculations, and reduced or absent tendon reflexes. Onset is in late adulthood, with men being affected more often than women. Upper motor neuron signs may develop later in some cases. Occurrence of respiratory insufficiency determines the prognosis. Neuropathological analysis shows intraneuronal Bunina bodies and ubiquitin-positive inclusions.

Orphanet entry

Cross-references

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

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,800 matched papers (910 in last 10 years) Source

  3. Phenotype characterisedPresent

    1 HPO annotations (e.g. Adult onset) 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

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

1

Associated phenotypes · MONDO:0018687

  • Adult onset

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?

2,800

2,800 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

2,800 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).

910 in the last 10 years · low confidence

Phrase hits: 2,800 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,265

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
    van den Berg LH12 papers · 2026

    UMC Utrecht Brain Center, Department of Neurology, University Medical Center Utrecht, Utrecht, the Netherlands.

    Papers in Europe PMC
  2. 02
    de Carvalho M8 papers · 2026

    Instituto de Fisiologia, Instituto de Medicina Molecular, Faculdade de Medicina, Univeridade de Lisboa, Lisbon, Portugal.

    Papers in Europe PMC
  3. 03
    Silani V8 papers · 2025

    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Università degli Studi di Milano, P.le Brescia 20, 20149, Milan, Italy.

    Papers in Europe PMC
  4. 04
    Ticozzi N8 papers · 2025

    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Università degli Studi di Milano, P.le Brescia 20, 20149, Milan, Italy. n.ticozzi@auxologico.it.

    Papers in Europe PMC
  5. 05
    Beelen A6 papers · 2025

    Department of Rehabilitation, Physical Therapy Science and Sports, Brain Center, University Medical Center Utrecht, Utrecht, The Netherlands.

    Papers in Europe PMC
  6. 06
    Benatar M6 papers · 2025

    Department of Neurology and the ALS Center, Miller School of Medicine, University of Miami, Miami, FL 33129, USA.

    Papers in Europe PMC
  7. 07
    Oliveira Santos M6 papers · 2026

    Institute of Physiology-Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Department of Neurosciences, Hospital de Santa Maria-CHULN, Lisbon, Portugal.

    Papers in Europe PMC
  8. 08
    Verde F6 papers · 2024

    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Università degli Studi di Milano, P.le Brescia 20, 20149, Milan, Italy.

    Papers in Europe PMC
  9. 09
    Colombo E5 papers · 2023

    Department of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Università degli Studi di Milano, P.le Brescia 20, 20149, Milan, Italy.

    Papers in Europe PMC
  10. 10
    Corti S5 papers · 2024

    Neuroscience Section, Dino Ferrari Centre, Department of Pathophysiology and Transplantation (DEPT) (D.G., R.D.B., G.P.C.,S.C., D.R.), University of Milan, Italy; Neurology Unit (D.G., M.M., S.C., D.R.), Foundation IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy; Blood Transfusion Research Center (M.A.), High Institute for Research and Education in Transfusion Medicine, Tehran, Iran; Neuromuscular and Rare Diseases Unit, Department of Neuroscience (G.P.C.), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

11 observational studies match 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 6 · after dedupe 6 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 6 · 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 (6)

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 Progressive muscular atrophy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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.

"Progressive muscular atrophy"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Progressive muscular atrophy"

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: 3 interventional · 11 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: PMA

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 (2800) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T16:41:36.077Z