ORPHA:178400
Distal myopathy with anterior tibial onset
Also known as: Distal anterior compartment myopathy
Publications
155
58.3th percentile
Trials
2
Interventional, condition-specific
Researchers
832
Distinct authors in sample
Gene link
DYSF
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare, genetic neuromuscular disease characterized by a muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.
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:0011721
- MeSH:C564664
- OMIM:606768
- UMLS:C1847532
Additional Mondo synonyms (1)
distal anterior compartment myopathy
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.
- Gene identifiedPresent
Strong — DYSF
- LiteraturePresent
155 matched papers (64 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 trialPresent
2 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 (DYSF).
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?
155
155 papers have ever been published on this condition (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.
155 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).
64 in the last 10 years · high confidence · 58.3th percentile (publications denominator)
Phrase hits: 155 · MeSH hits: 0
Who's working on it?
832
Distinct author names in 155 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.
- 01Yokota T14 papers · 2025
Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada; The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada. Electronic address: toshifum@ualberta.ca.
Papers in Europe PMC - 02Bushby K10 papers · 2011
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 03Aoki M8 papers · 2026
Department of Neurology, Tohoku University School of Medicine, Sendai 980-8574, Japan. Electronic address: aokim@med.tohoku.ac.jp.
Papers in Europe PMC - 04Barresi R7 papers · 2011
Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.
Papers in Europe PMC - 05Han R7 papers · 2020
Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA.
Papers in Europe PMC - 06Straub V7 papers · 2011
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 07Brown RH Jr6 papers · 2019
Neurology Department, University of Massachusetts Medical School Worcester, Massachusetts, 01605.
Papers in Europe PMC - 08Illa I6 papers · 2020
Servei de Neurologia, Laboratori de Neurologia Experimental, Hospital de la Santa Creu i Sant Pau i Institut de Recerca de HSCSP, Universitat Autònoma de Barcelona and Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), 08193 Bellaterra, Spain.
Papers in Europe PMC - 09Lochmüller H6 papers · 2013
Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.
Papers in Europe PMC - 10Takahashi T6 papers · 2026
National Hospital Organization Sendai-Nishitaga Hospital, Sendai 982-8555, Japan.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
2
interventional trials for this specific condition
2 interventional trials matched this specific condition name; none in our sample are currently recruiting. 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
2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).
high confidence · 82.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
2 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: 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.
Observational and natural-history studies
2 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.
None of the matched observational studies is currently listed as recruiting.
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.
"Distal myopathy with anterior tibial onset" OR "Distal anterior compartment myopathy"
MeSH descriptor terms unioned into the query: Myopathy, Distal, with Anterior Tibial Onset
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Distal myopathy with anterior tibial onset" OR "Distal anterior compartment myopathy" OR "Myopathy, Distal, with Anterior Tibial Onset" OR "DYSF"
Recall-expansion terms: DYSF
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal myopathy"
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-27T08:51:49.318Z