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ORPHA:610

Bethlem muscular dystrophy

high confidenceDisorder

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

82.5th percentile

Trials

3

Interventional, condition-specific

Researchers

1,479

Distinct authors in sample

Gene link

—

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    846 matched papers (464 in last 10 years) Source

  3. Phenotype characterisedPresent

    172 HPO annotations (e.g. Gait disturbance; Distal muscle weakness; Ankle flexion contracture) Source

  4. Animal modelPresent

    4 genotype models (Danio rerio, Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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)

172

Associated phenotypes · MONDO:0008029

  • Gait disturbance
  • Distal muscle weakness
  • Ankle flexion contracture
  • Joint hypermobility
  • Waddling gait

Showing 5 of 172 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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?

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=3967) is 59.

846 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).

464 in the last 10 years · high confidence · 82.5th percentile (publications denominator)

Phrase hits: 846 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Merlini L14 papers · 2026

    SC Laboratory of Musculoskeletal Cell Biology, IOR, Bologna, Italy.

    Papers in Europe PMC
  2. 02
    Bönnemann 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
  3. 03
    Sabatelli P11 papers · 2026

    CNR-Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza"- Unit of Bologna, Bologna, Italy.

    Papers in Europe PMC
  4. 04
    Gualandi F10 papers · 2025

    UOL (Unità Operativa Logistica) of Medical Genetics, University of Ferrara, Ferrara, Italy.

    Papers in Europe PMC
  5. 05
    Bonaldo P9 papers · 2024

    Department of Molecular Medicine, University of Padova, 35131 Padova, Italy.

    Papers in Europe PMC
  6. 06
    Donkervoort 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
  7. 07
    Braghetta P7 papers · 2024

    Department of Molecular Medicine, University of Padova, 35131 Padova, Italy.

    Papers in Europe PMC
  8. 08
    Ferlini A7 papers · 2025

    UOL (Unità Operativa Logistica) of Medical Genetics, University of Ferrara, Ferrara, Italy.

    Papers in Europe PMC
  9. 09
    Foley 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
  10. 10
    Lamandé 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 11 September 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

high confidence · 86.7th 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

    Not reviewed·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

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

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 Bethlem muscular 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.

"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"

Run this search on Europe PMC

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