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ORPHA:272

Congenital muscular dystrophy, Fukuyama type

low confidenceDisorder

Also known as: FCMD · FKTN-related congenital muscular dystrophy · Fukuyama congenital muscular dystrophy

Publications

1,215

Trials

0

Interventional, condition-specific

Researchers

1,010

Distinct authors in sample

Gene link

FKTN

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare muscular often characterized by brain (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, and motor impairment.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (6)

Fukuyama Type Congenital Muscular Dystrophy · MDDGA4 · Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related · muscle-eye-brain-FKTN related · muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4 · muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 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.

  1. Gene identifiedPresent

    Definitive — FKTN

  2. LiteraturePresent

    1,215 matched papers (449 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPartial

    None under the specific name; 7 for broader category congenital muscular dystrophy

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 (FKTN).

GenCC classification: Definitive.

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?

1,215

1,215 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=5449) is 41.

1,215 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).

449 in the last 10 years · low confidence

Phrase hits: 1,215 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,010

Distinct author names in 200 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
    Ishigaki K20 papers · 2025

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan. Electronic address: ishigaki.keiko@twmu.ac.jp.

    Papers in Europe PMC
  2. 02
    Toda T17 papers · 2026

    Division of Neurology, Kobe University Graduate School of Medicine.

    Papers in Europe PMC
  3. 03
    Taniguchi-Ikeda M15 papers · 2025

    Division of Pediatrics, Kobe University Graduate School of Medicine, Japan.

    Papers in Europe PMC
  4. 04
    Murakami T13 papers · 2025

    Department of Pediatrics, Tokyo Women's Medical University, School of Medicine, Japan.

    Papers in Europe PMC
  5. 05
    Sato T13 papers · 2025

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Ishiguro K11 papers · 2025

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  7. 07
    Nagata S11 papers · 2025

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  8. 08
    Shichiji M11 papers · 2025

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  9. 09
    Osawa M10 papers · 2020

    Tokyo Women's Medical University, School of Medicine, Tokyo, Japan.

    Papers in Europe PMC
  10. 10
    Yamamoto T8 papers · 2025

    Department of Pathology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan. sheto@research.twmu.ac.jp

    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. 7 trials are registered for congenital muscular dystrophy, 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.

low 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.

7 interventional trials matched congenital muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: congenital muscular dystrophy

7

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.

Recruiting under the broader category

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.

Recruiting or not-yet-recruiting

  • NCT01403402·RECRUITING·Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Conditions: Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) Deficiency · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations) · Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Hypoglycosylation of Dystroglycan)·Matched via name phrase

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Congenital muscular dystrophy, Fukuyama type" OR "FKTN-related congenital muscular dystrophy" OR "Fukuyama congenital muscular dystrophy" OR "Fukuyama Type Congenital Muscular Dystrophy" OR "MDDGA4" OR "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" OR "muscle-eye-brain-FKTN related" OR "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" OR "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"

Run this search on Europe PMC

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

"Congenital muscular dystrophy, Fukuyama type" OR "FKTN-related congenital muscular dystrophy" OR "Fukuyama congenital muscular dystrophy" OR "Fukuyama Type Congenital Muscular Dystrophy" OR "MDDGA4" OR "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" OR "muscle-eye-brain-FKTN related" OR "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4" OR "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4" OR "FKTN" OR "muscular dystrophy-dystroglycanopathy, type A" OR "muscular dystrophy-dystroglycanopathy"

Recall-expansion terms: FKTN, muscular dystrophy-dystroglycanopathy, type A, muscular dystrophy-dystroglycanopathy

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

Parent-category trials query:

"congenital muscular dystrophy"

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: FCMD

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 (1215) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:09:31.532Z