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ORPHA:98909

Desminopathy

low confidenceDisorder

Also known as: Desmin-related myofibrillar myopathy

Publications

770

Trials

0

Interventional, condition-specific

Researchers

1,408

Distinct authors in sample

Gene link

DES

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hypoventilation with oxygen desaturation and progressing to daytime respiratory failure.

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 (10)

DES autosomal recessive limb-girdle muscular dystrophy · DES myofibrillar myopathy (disease) · autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES · autosomal recessive limb-girdle muscular dystrophy type 2R · desmin-related myofibrillar myopathy · desminopathy · myofibrillar myopathy (disease) caused by mutation in DES · myofibrillar myopathy 1 · myofibrillar myopathy type 1 · myopathy, myofibrillar, 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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — DES

  2. LiteraturePresent

    770 matched papers (443 in last 10 years) Source

  3. Phenotype characterisedPresent

    33 HPO annotations (e.g. Gait disturbance; Progressive muscle weakness; Axial muscle weakness) Source

  4. Animal modelPresent

    7 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (DES).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

33

Associated phenotypes · MONDO:0011076

  • Gait disturbance
  • Progressive muscle weakness
  • Axial muscle weakness
  • Distal lower limb muscle weakness
  • Congestive heart failure

Showing 5 of 33 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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)

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?

770

770 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.

770 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).

443 in the last 10 years · low confidence

Phrase hits: 404 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,408

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
    Schröder R29 papers · 2025

    Institute of Neuropathology and Department of Neurology, University Hospital Erlangen, Erlangen, Germany. rolf.schroeder@uk-erlangen.de

    Papers in Europe PMC
  2. 02
    Clemen CS21 papers · 2025

    Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Street 52, 50931 Cologne, Germany. christoph.clemen@uni-koeln.de

    Papers in Europe PMC
  3. 03
    Herrmann H9 papers · 2022

    Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  4. 04
    Marcus K9 papers · 2025

    Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.

    Papers in Europe PMC
  5. 05
    Berwanger C8 papers · 2025

    Center for Biochemistry, Institute of Biochemistry I, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.

    Papers in Europe PMC
  6. 06
    Milting H8 papers · 2025

    Erich and Hanna Klessmann Institute for Cardiovascular Research & Development, Heart and Diabetes Centre NRW, Ruhr-University Bochum, Georgstrasse 11, 32545, Bad Oeynhausen, Germany. hmilting@hdz-nrw.de.

    Papers in Europe PMC
  7. 07
    Schlötzer-Schrehardt U8 papers · 2025

    From the Department of Neurology (H.D., F.D., Y.P., P.S.-O.), Faculty of Medicine, Istanbul University; Department of Molecular Biology and Genetics (Ö.A., A.T.), Boğaziçi University, Istanbul, Turkey; Children's National Medical Center (S.Ç.), Research Center for Genetic Medicine, Washington, DC; Department of Pediatrics, Institute for Human Genetics, and Center for Molecular Medicine, University Hospital Cologne; Institute of Clinical Molecular Biology (A.F., G.H.-S.), Christian-Albrechts-University of Kiel; Institute of Biochemistry (N.E., S.H.), Institute of Neuropathology (F.C., R.S.), and Department of Ophthalmology (U.S.-S.), Friedrich-Alexander-University of Erlangen-Nuremberg; and Center for Biochemistry, Institute of Biochemistry I, Medical Faculty (C.S.C.), University of Cologne, Germany.

    Papers in Europe PMC
  8. 08
    Winter L8 papers · 2025

    Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.

    Papers in Europe PMC
  9. 09
    Brodehl A7 papers · 2024

    Erich and Hanna Klessmann Institute for Cardiovascular Research & Development, Heart and Diabetes Centre NRW, Ruhr-University Bochum, Georgstrasse 11, 32545, Bad Oeynhausen, Germany. abrodehl@hdz-nrw.de.

    Papers in Europe PMC
  10. 10
    Friedrich O7 papers · 2022

    Institute of Medical Biotechnology, Friedrich-Alexander Universität Erlangen-Nürnberg, Paul-Gordan-Str.3, 91052, Erlangen, Germany. oliver.friedrich@mbt.uni-erlangen.de.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Desminopathy — 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.

("Desminopathy" OR "Desmin-related myofibrillar myopathy" OR "DES autosomal recessive limb-girdle muscular dystrophy" OR "DES myofibrillar myopathy (disease)" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" OR "autosomal recessive limb-girdle muscular dystrophy type 2R" OR "myofibrillar myopathy (disease) caused by mutation in DES" OR "myofibrillar myopathy 1" OR "myofibrillar myopathy type 1" OR "myopathy, myofibrillar, type 1") OR ("DES syndrome" OR "DES-related")

Run this search on Europe PMC

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

"Desminopathy" OR "Desmin-related myofibrillar myopathy" OR "DES autosomal recessive limb-girdle muscular dystrophy" OR "DES myofibrillar myopathy (disease)" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" OR "autosomal recessive limb-girdle muscular dystrophy type 2R" OR "myofibrillar myopathy (disease) caused by mutation in DES" OR "myofibrillar myopathy 1" OR "myofibrillar myopathy type 1" OR "myopathy, myofibrillar, type 1"

Study-type breakdown: 0 interventional · 0 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 short or not clearly distinctive
  • No synonyms dropped by stoplist
  • "autosomal recessive limb-girdle muscular dystrophy type 2R" also appears on ORPHA:363543

Ingested 2026-07-27T05:42:27.360Z