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ORPHA:178400

Distal myopathy with anterior tibial onset

low confidenceDisorder

Also known as: Distal anterior compartment myopathy

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

2,444

Trials

0

Interventional, condition-specific

Researchers

832

Distinct authors in sample

Gene link

DYSF

Strong

Readiness

4/6

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.

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 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.”

4/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — DYSF

  2. LiteraturePresent

    2,444 matched papers (1,633 in last 10 years) Source

  3. Phenotype characterisedPresent

    17 HPO annotations (e.g. Tibialis muscle weakness; Progressive proximal muscle weakness; Absent Achilles reflex) 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?

Yes — we know a specific gene responsible (DYSF).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

17

Associated phenotypes · MONDO:0011721

  • Tibialis muscle weakness
  • Progressive proximal muscle weakness
  • Absent Achilles reflex
  • Intrinsic hand muscle atrophy
  • Weakness of the intrinsic hand muscles

Showing 5 of 17 — 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?

2,444

2,444 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.

2,444 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).

1,633 in the last 10 years · low confidence

Phrase hits: 155 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

832

Distinct author names in 155 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
    Yokota 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
  2. 02
    Bushby K10 papers · 2011

    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  3. 03
    Aoki 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
  4. 04
    Barresi R7 papers · 2011

    Muscle Immunoanalysis Unit, Newcastle upon Tyne Hospitals Trust, Newcastle, UK.

    Papers in Europe PMC
  5. 05
    Han 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
  6. 06
    Straub V7 papers · 2011

    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  7. 07
    Brown RH Jr6 papers · 2019

    Neurology Department, University of Massachusetts Medical School Worcester, Massachusetts, 01605.

    Papers in Europe PMC
  8. 08
    Illa 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
  9. 09
    Lochmüller H6 papers · 2013

    Institute of Human Genetics, Newcastle University, Newcastle upon Tyne, UK.

    Papers in Europe PMC
  10. 10
    Takahashi T6 papers · 2026

    National Hospital Organization Sendai-Nishitaga Hospital, Sendai 982-8555, Japan.

    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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 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.

Observational and natural-history studies

1 observational study matches 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.

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 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 Distal myopathy with anterior tibial onset — 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.

("Distal myopathy with anterior tibial onset" OR "Distal anterior compartment myopathy") OR (MESH:"Myopathy, Distal, with Anterior Tibial Onset") OR ("DYSF" OR "DYSF syndrome" OR "DYSF-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"distal myopathy"

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (2444) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:51:49.318Z