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ORPHA:399086

HNRNPA1-related adult-onset distal myopathy

low confidenceDisorder

Also known as: Distal myopathy type 3 · Finnish upper limb-onset distal myopathy · MPD3

Publications

6,609

Trials

0

Interventional, condition-specific

Researchers

19

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Finnish upper limb-onset distal is a rare, genetic distal characterized by slowly distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

distal myopathy type 3

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

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    6,609 matched papers (5,076 in last 10 years) Source

  3. Phenotype characterisedPresent

    28 HPO annotations (e.g. Mildly elevated creatine kinase; Joint contracture of the hand; Rimmed vacuoles) 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 trialPartial

    None under the specific name; 4 for broader category distal myopathy

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)

28

Associated phenotypes · MONDO:0012410

  • Mildly elevated creatine kinase
  • Joint contracture of the hand
  • Rimmed vacuoles
  • EMG: myopathic abnormalities
  • Abnormal foot morphology

Showing 5 of 28 — 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?

6,609

6,609 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.

6,609 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).

5,076 in the last 10 years · low confidence

Phrase hits: 5 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

19

Distinct author names in 5 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Argov Z1 paper · 2011
    Papers in Europe PMC
  2. 02
    Barohn RJ1 paper · 2014

    Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA. Electronic address: rbarohn@kumc.edu.

    Papers in Europe PMC
  3. 03
    Ben-Bassat H1 paper · 2011
    Papers in Europe PMC
  4. 04
    Dabby R1 paper · 2011
    Papers in Europe PMC
  5. 05
    Dias da Costa T1 paper · 2025

    Internal Medicine Department, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.

    Papers in Europe PMC
  6. 06
    Dimachkie MM1 paper · 2014

    Neuromuscular Section, Neurophysiology Division, Department of Neurology, University of Kansas Medical Center, 3901 Rainbow Boulevard, Mail Stop 2012, Kansas City, KS 66160, USA.

    Papers in Europe PMC
  7. 07
    Jackson CE1 paper · 2014

    Division of Neurology, UT Medicine San Antonio, University of Texas Health Science Center, 8300 Floyd Curl Drive, Mail Code 7883, San Antonio, TX 78229-3900, USA.

    Papers in Europe PMC
  8. 08
    Liewluck T1 paper · 2022

    Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.

    Papers in Europe PMC
  9. 09
    Mateus-Pinheiro A1 paper · 2025

    Internal Medicine Department, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.

    Papers in Europe PMC
  10. 10
    Milman Krentsis I1 paper · 2011
    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 4 trials are registered for distal myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

4 interventional trials matched distal myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: distal myopathy

4

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 HNRNPA1-related adult-onset distal myopathy — 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.

("HNRNPA1-related adult-onset distal myopathy" OR "Distal myopathy type 3" OR "Finnish upper limb-onset distal myopathy") OR ("HNRNPA1" OR "HNRNPA1 syndrome" OR "HNRNPA1-related")

Run this search on Europe PMC

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

"HNRNPA1-related adult-onset distal myopathy" OR "Distal myopathy type 3" OR "Finnish upper limb-onset distal myopathy"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"distal myopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MPD3

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 (6609) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T15:22:44.361Z