ORPHA:399086
HNRNPA1-related adult-onset distal myopathy
Also known as: Distal myopathy type 3 · Finnish upper limb-onset distal myopathy · MPD3
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
5
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
19
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012410
- OMIM:610099
- UMLS:C1864706
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.”
2/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
5 matched papers (3 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 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)
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?
5
5 papers have ever been indexed 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.
5 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).
3 in the last 10 years · medium confidence · 15.2th percentile (publications denominator)
Phrase hits: 5 · MeSH hits: 0
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.
- 01Argov Z1 paper · 2011Papers in Europe PMC
- 02Barohn 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 - 03Ben-Bassat H1 paper · 2011Papers in Europe PMC
- 04Dabby R1 paper · 2011Papers in Europe PMC
- 05Dias da Costa T1 paper · 2025
Internal Medicine Department, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
Papers in Europe PMC - 06Dimachkie 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 - 07Jackson 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 - 08Liewluck T1 paper · 2022
Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA.
Papers in Europe PMC - 09Mateus-Pinheiro A1 paper · 2025
Internal Medicine Department, Unidade Local de Saúde de Coimbra, Coimbra, Portugal.
Papers in Europe PMC - 10Milman Krentsis I1 paper · 2011Papers 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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 2026-07-26This 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"
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" OR "autosomal dominant distal myopathy"
Recall-expansion terms: autosomal dominant 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: suspect — strategies attempted: phrase, recall-expansion; 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
Ingested 2026-07-27T15:22:44.361Z