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ORPHA:606

Proximal myotonic myopathy

high confidenceDisorder

Also known as: Myotonic dystrophy type 2 · Proximal myotonic dystrophy · Ricker disease · Ricker syndrome

Publications

2,745

90.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,078

Distinct authors in sample

Gene link

CNBP

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare myotonic of juvenile or adult-onset characterized by mild and fluctuating myotonia, muscle weakness, and rarely cardiac conduction disorders.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

CNBP myotonic dystrophy · myotonic dystrophy caused by mutation in CNBP · myotonic dystrophy type 2 · proximal myotonic dystrophy · proximal myotonic myopathy · ricker disease · ricker syndrome

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — CNBP

  2. LiteraturePresent

    2,745 matched papers (1,785 in last 10 years) Source

  3. Phenotype characterisedPresent

    57 HPO annotations (e.g. Skeletal muscle atrophy; Myalgia; Axial muscle weakness) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (CNBP).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

57

Associated phenotypes · MONDO:0011266

  • Skeletal muscle atrophy
  • Myalgia
  • Axial muscle weakness
  • Sensorineural hearing impairment
  • Abdominal pain

Showing 5 of 57 — 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

1

Drugs / clinical candidates · MONDO_0011266

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,745

2,745 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.

2,745 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).

1,785 in the last 10 years · high confidence · 90.1th percentile (publications denominator)

Phrase hits: 1,135 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,078

Distinct author names in 200 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.

  1. 01
    Schoser B19 papers · 2025

    Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany. bschoser@med.uni-muenchen.de.

    Papers in Europe PMC
  2. 02
    Meola G14 papers · 2025

    Department of Neurology and Laboratory of Muscle Histopathology and Molecular Biology, IRCCS Policlinico San Donato, University of Milan, Italy.

    Papers in Europe PMC
  3. 03
    Peric S12 papers · 2026

    Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr. Subotic Street, Belgrade, 11000, Serbia.

    Papers in Europe PMC
  4. 04
    Massa R10 papers · 2026

    System Medicine Department, University of Rome Tor Vergata, Rome, Italy.

    Papers in Europe PMC
  5. 05
    Montagnese F10 papers · 2024

    Friedrich-Baur-Institute, Department of Neurology, University Clinics Ludwig-Maximilians-University of Munich, Ziemssenstr. 1a, 80336, Munich, Germany.

    Papers in Europe PMC
  6. 06
    Botta A9 papers · 2026

    Dept. of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Italy. Electronic address: botta@med.uniroma2.it.

    Papers in Europe PMC
  7. 07
    Novelli G9 papers · 2026

    Dept. of Biomedicine and Prevention, Medical Genetics Section, University of Rome Tor Vergata, Italy; Neuromed IRCSS Pozzilli, Italy.

    Papers in Europe PMC
  8. 08
    Rakocevic-Stojanovic V8 papers · 2024

    Neurology Clinic, Clinical Center of Serbia, School of Medicine, University of Belgrade, 6, Dr. Subotic Street, Belgrade, 11000, Serbia. stojan.peric@gmail.com.

    Papers in Europe PMC
  9. 09
    Papadopoulos C7 papers · 2022

    1st Department of Neurology, Eginition Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.

    Papers in Europe PMC
  10. 10
    Voermans NC7 papers · 2026

    Neuromuscular Centre Nijmegen, Department of Neurology, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address: Nicol.Voermans@radboudumc.nl.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

6 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.

Recruiting or not-yet-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 4 · after dedupe 4 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 4 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (4)

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 Proximal myotonic myopathy — 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.

("Proximal myotonic myopathy" OR "Myotonic dystrophy type 2" OR "Proximal myotonic dystrophy" OR "Ricker disease" OR "Ricker syndrome" OR "CNBP myotonic dystrophy" OR "myotonic dystrophy caused by mutation in CNBP") OR ("CNBP" OR "CNBP syndrome" OR "CNBP-related")

Run this search on Europe PMC

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

"Proximal myotonic myopathy" OR "Myotonic dystrophy type 2" OR "Proximal myotonic dystrophy" OR "Ricker disease" OR "Ricker syndrome" OR "CNBP myotonic dystrophy" OR "myotonic dystrophy caused by mutation in CNBP"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 6 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase; 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 2026-07-26T14:31:59.670Z