ORPHA:610
Bethlem muscular dystrophy
Also known as: Bethlem myopathy · LGMD D5 collagen 6-related dystrophy · LGMD D5 collagen VI-related dystrophy · LGMD R22 collagen 6-related dystrophy · LGMD R22 collagen VI-related dystrophy · Mild form of COL6-related dystrophy · Mild form of collagen VI-related dystrophy
Publications
846
89.5th percentile
Trials
3
Interventional, condition-specific
Researchers
1,479
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A form of muscular characterized by a to childhood onset of proximal muscle weakness, joint contractures, and potential respiratory insufficiency in adulthood.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008029
- MeSH:C535436
- UMLS:C1834674
- NCIT:C126688
Additional Mondo synonyms (2)
Bethlem myopathy type 1 · benign autosomal dominant myopathy
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
846 matched papers (464 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 trialPresent
3 matched on ClinicalTrials.gov
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
846
846 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.
846 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).
464 in the last 10 years · high confidence · 89.5th percentile (publications denominator)
Phrase hits: 846 · MeSH hits: 0
Who's working on it?
1,479
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.
- 01Merlini L14 papers · 2026
SC Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy.
Papers in Europe PMC - 02Bönnemann CG11 papers · 2025
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 03Sabatelli P11 papers · 2026
CNR-Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza"- Unit of Bologna, Bologna, Italy.
Papers in Europe PMC - 04Gualandi F10 papers · 2025
UOL (Unità Operativa Logistica) of Medical Genetics, University of Ferrara, Ferrara, Italy.
Papers in Europe PMC - 05Bonaldo P9 papers · 2024
Department of Molecular Medicine, University of Padova, 35131 Padova, Italy.
Papers in Europe PMC - 06Donkervoort S8 papers · 2025
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 07Braghetta P7 papers · 2024
Department of Molecular Medicine, University of Padova, 35131 Padova, Italy.
Papers in Europe PMC - 08Ferlini A7 papers · 2025
UOL (Unità Operativa Logistica) of Medical Genetics, University of Ferrara, Ferrara, Italy.
Papers in Europe PMC - 09Foley AR7 papers · 2025
Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 10Lamandé SR7 papers · 2025
From the Murdoch Childrens Research Institute, Royal Children's Hospital, Parkville 3052, Australia, Department of Paediatrics, University of Melbourne, Parkville 3010, Australia, shireen.lamande@mcri.edu.au.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
high confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
2 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
- 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
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.
"Bethlem muscular dystrophy" OR "Bethlem myopathy" OR "LGMD D5 collagen 6-related dystrophy" OR "LGMD D5 collagen VI-related dystrophy" OR "LGMD R22 collagen 6-related dystrophy" OR "LGMD R22 collagen VI-related dystrophy" OR "Mild form of COL6-related dystrophy" OR "Mild form of the COL6-related dystrophy" OR "Mild form of collagen VI-related dystrophy" OR "Mild form of the collagen VI-related dystrophy" OR "Bethlem myopathy type 1" OR "benign autosomal dominant myopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Bethlem muscular dystrophy" OR "Bethlem myopathy" OR "LGMD D5 collagen 6-related dystrophy" OR "LGMD D5 collagen VI-related dystrophy" OR "LGMD R22 collagen 6-related dystrophy" OR "LGMD R22 collagen VI-related dystrophy" OR "Mild form of COL6-related dystrophy" OR "Mild form of the COL6-related dystrophy" OR "Mild form of collagen VI-related dystrophy" OR "Mild form of the collagen VI-related dystrophy" OR "Bethlem myopathy type 1" OR "benign autosomal dominant myopathy"
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: 3 interventional · 2 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 2026-07-26T14:32:42.684Z