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ORPHA:273

Steinert myotonic dystrophy

medium confidenceDisorder

Also known as: Myotonic dystrophy type 1 · Steinert disease

Publications

17,162

96.5th percentile

Trials

45

Interventional, condition-specific

Researchers

1,237

Distinct authors in sample

Gene link

DMPK

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (8)

DM1 · DMPK myotonic dystrophy · MD1 · Steinert myotonic dystrophy syndrome · Steinert syndrome · dystrophia myotonica · myotonic dystrophy caused by mutation in DMPK · myotonic dystrophy type 1

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.”

6/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — DMPK

  2. LiteraturePresent

    17,162 matched papers (8,431 in last 10 years) Source

  3. Phenotype characterisedPresent

    165 HPO annotations (e.g. Abnormally slow thought process; Premature birth; Speech apraxia) Source

  4. Animal modelPresent

    18 genotype models (Mus musculus) Source

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. Tideglusib Source

  6. Interventional trialPresent

    45 matched on ClinicalTrials.gov (16 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 (DMPK).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

165

Associated phenotypes · MONDO:0008056

  • Abnormally slow thought process
  • Premature birth
  • Speech apraxia
  • Bundle branch block
  • Cataract

Showing 5 of 165 — open Monarch for the full list.

Animal models (Monarch / Alliance)

18

Model associations linked to this Mondo ID

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA TideglusibMyotonic Dystrophy DM1 · 2017-06-19 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

12

Drugs / clinical candidates · MONDO_0008056

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

17,162

17,162 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

17,162 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).

8,431 in the last 10 years · medium confidence · 96.5th percentile (publications denominator)

Phrase hits: 11,236 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,237

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
    Johnson NE12 papers · 2026

    Department of Neurology, Richmond Commonwealth University, Richmond, USA.

    Papers in Europe PMC
  2. 02
    Gagnon C11 papers · 2026

    Interdisciplinary Research Group on Neuromuscular Diseases (GRIMN), Integrated University Health and Social Services Centre of Saguenay-Lac-Saint-Jean, Saguenay, QC, Canada.

    Papers in Europe PMC
  3. 03
    Thornton CA8 papers · 2026

    Department of Neurology, University of Rochester Medical Center, NY.

    Papers in Europe PMC
  4. 04
    Gourdon G7 papers · 2026

    Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.

    Papers in Europe PMC
  5. 05
    Mul K7 papers · 2026

    Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud Research Institute for Medical Innovation, Nijmegen, The Netherlands.

    Papers in Europe PMC
  6. 06
    Schoser B7 papers · 2026

    Friedrich-Baur-Institute, Dep. of Neurology LMU Clinic, Munich, Germany.

    Papers in Europe PMC
  7. 07
    Artero R6 papers · 2026

    CIBER de Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain.

    Papers in Europe PMC
  8. 08
    Bassez G6 papers · 2026

    Neuromuscular Reference Centre, Pitiè-Salpêtrière Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.

    Papers in Europe PMC
  9. 09
    Chahine M6 papers · 2026

    CERVO Brain Research Centre, Quebec City, QC, Canada; Department of Medicine, Faculty of Medicine, Université Laval, Quebec City, QC, Canada. Electronic address: mohamed.chahine@phc.ulaval.ca.

    Papers in Europe PMC
  10. 10
    Eichinger K6 papers · 2026

    Department of Neurology, University of Rochester Medical Center, NY.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

45

interventional trials for this specific condition

45 interventional trials matched this specific condition name; 16 currently recruiting in our sample. 20 trials are registered for myotonic dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

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

45 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 97th percentile).

medium confidence · 97th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: myotonic dystrophy

20

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

27 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 15 · after dedupe 15 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 15 · 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 (15)

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 Steinert myotonic dystrophy — 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.

("Steinert myotonic dystrophy" OR "Myotonic dystrophy type 1" OR "Steinert disease" OR "DMPK myotonic dystrophy" OR "Steinert myotonic dystrophy syndrome" OR "Steinert syndrome" OR "dystrophia myotonica" OR "myotonic dystrophy caused by mutation in DMPK") OR ("DMPK" OR "DMPK syndrome" OR "DMPK-related")

Run this search on Europe PMC

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

"Steinert myotonic dystrophy" OR "Myotonic dystrophy type 1" OR "Steinert disease" OR "DMPK myotonic dystrophy" OR "Steinert myotonic dystrophy syndrome" OR "Steinert syndrome" OR "dystrophia myotonica" OR "myotonic dystrophy caused by mutation in DMPK"

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: 45 interventional · 27 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myotonic dystrophy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DM1; MD1

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T13:09:56.536Z