ORPHA:63273
FLNC-related handgrip and calf weakness-distal myopathy
Also known as: Distal ABD-filaminopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4
15.2th percentile
Trials
0
Interventional, condition-specific
Researchers
53
Distinct authors in sample
Gene link
FLNC
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Distal with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a symmetric muscle weakness of anterior upper and posterior lower limbs.
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:0013550
- OMIM:614065
- UMLS:C3279722
Additional Mondo synonyms (2)
distal ABD-filaminopathy · myopathy, distal, type 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
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — FLNC
- LiteraturePresent
4 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?
Yes — we know a specific gene responsible (FLNC).
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?
4
4 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.
4 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 · high confidence · 15.2th percentile (publications denominator)
Phrase hits: 4 · MeSH hits: 0
Who's working on it?
53
Distinct author names in 4 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.
- 01Hackman P2 papers · 2020
Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland.
Papers in Europe PMC - 02Udd B2 papers · 2020
Folkhälsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, 00014 Helsinki, Finland; Neuromuscular Research Unit, University of Tampere, Department of Neurology Tampere University Hospital, 33520 Tampere, Finland; Department of Neurology, Vasa Central Hospital, 65130 Vasa, Finland.
Papers in Europe PMC - 03Bassi MT1 paper · 2022
Laboratory of Molecular Biology, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 04Brown RH Jr1 paper · 2011
Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Papers in Europe PMC - 05Bugiardini E1 paper · 2018
MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Papers in Europe PMC - 06Cinnante C1 paper · 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuroradiology Unit, Milan, Italy.
Papers in Europe PMC - 07Citterio A1 paper · 2022
Laboratory of Molecular Biology, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 08Comi GP1 paper · 2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Neuromuscular and Rare Diseases Unit, Department of Neuroscience, Milan, Italy.
Papers in Europe PMC - 09D'Angelo MG1 paper · 2022
NeuroMuscular Unit, Scientific Institute for Research, Hospitalization and Healthcare (IRCCS) E. Medea, Bosisio Parini, Italy.
Papers in Europe PMC - 10Djinović-Carugo K1 paper · 2011
Department for Structural and Computational Biology, Max F. Perutz Laboratories, University of Vienna, 1030 Vienna, Austria; Department of Biochemistry, Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana 1000, Slovenia.
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 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.
high 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.
"FLNC-related handgrip and calf weakness-distal myopathy" OR "Distal ABD-filaminopathy" OR "myopathy, distal, type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"FLNC-related handgrip and calf weakness-distal myopathy" OR "Distal ABD-filaminopathy" OR "myopathy, distal, type 4" OR "FLNC" OR "autosomal dominant distal myopathy"
Recall-expansion terms: FLNC, 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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:07:10.658Z