ORPHA:98909
Desminopathy
Also known as: Desmin-related myofibrillar myopathy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
404
Trials
0
Interventional, condition-specific
Researchers
1,408
Distinct authors in sample
Gene link
DES
Definitive
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011076
- OMIM:601419
- OMIM:615325
- UMLS:C1832370
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — DES
- LiteraturePresent
404 matched papers (246 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
404
404 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
404 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).
246 in the last 10 years · low confidence
Phrase hits: 404 · MeSH hits: 0
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.
- 01Schröder R29 papers · 2025
Institute of Neuropathology and Department of Neurology, University Hospital Erlangen, Erlangen, Germany. rolf.schroeder@uk-erlangen.de
Papers in Europe PMC - 02Clemen 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 - 03Herrmann H9 papers · 2022
Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
Papers in Europe PMC - 04Marcus K9 papers · 2025
Medizinisches Proteom-Center, Ruhr-University Bochum, D-44801, Bochum, Germany.
Papers in Europe PMC - 05Berwanger 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 - 06Milting 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 - 07Schlötzer-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 - 08Winter L8 papers · 2025
Institute of Neuropathology, University Hospital Erlangen, Erlangen, Germany.
Papers in Europe PMC - 09Brodehl 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 - 10Friedrich 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 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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 2026-07-26This 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"
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" OR "DES"
Recall-expansion terms: DES
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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