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ORPHA:34516

DNAJB6-related limb-girdle muscular dystrophy D1

low confidenceDisorder

Also known as: Autosomal dominant limb-girdle muscular dystrophy type 1D · DNAJB6-related LGMD D1 · LGMD type 1D · LGMD1D · Limb-girdle muscular dystrophy type 1D

Publications

1,500

Trials

0

Interventional, condition-specific

Researchers

735

Distinct authors in sample

Gene link

DNAJB6

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A subtype of limb-girdle muscular characterized by an adult-onset of slowly , proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (4)

DNAJB6 autosomal dominant limb-girdle muscular dystrophy · LGMD1D (DNAJB6) · autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6 · muscular dystrophy, limb-girdle, autosomal dominant 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.”

5/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Strong — DNAJB6

  2. LiteraturePresent

    1,500 matched papers (1,102 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Gowers sign; Decreased compound muscle action potential amplitude; Pelvic girdle muscle weakness) Source

  4. Animal modelPresent

    1 genotype model (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 trialPartial

    None under the specific name; 24 for broader category limb-girdle muscular dystrophy

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 (DNAJB6).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

30

Associated phenotypes · MONDO:0021018

  • Gowers sign
  • Decreased compound muscle action potential amplitude
  • Pelvic girdle muscle weakness
  • Rimmed vacuoles
  • Waddling gait

Showing 5 of 30 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

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?

1,500

1,500 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.

1,500 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).

1,102 in the last 10 years · low confidence

Phrase hits: 119 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

735

Distinct author names in 119 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
    Udd B15 papers · 2021

    Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

    Papers in Europe PMC
  2. 02
    Palmio J10 papers · 2020

    From the Institute for Neuroscience and Muscle Research (R.G., L.W., S.K., N.C.), Kids Research Institute, Children's Hospital at Westmead & University of Sydney, Australia; Neuromuscular Research Center, Department of Neurology (J.P., S.P., M.L., B.U.), and Department of Pathology, Fimlab Laboratories (S.H.), Tampere University Hospital and University of Tampere, Finland; Department of Pathology (J.B.), Royal North Shore Hospital, Sydney, Australia; Broad Institute of Harvard and MIT (M.L., D.G.M.), Cambridge, MA; Western Australian Neurosciences Research Institute (M.N.), University of Western Australia, Perth; Folkhälsan Institute of Genetics and Department of Medical Genetics (A.E., P.H., P.H.-J., A.V., B.U.), University of Helsinki, Finland; Department of Neurogenetics (R.L.D., C.Y., C.M.S.), Kolling Institute, Royal North Shore Hospital and University of Sydney; Murdoch Children's Research Institute (K.N.), The Royal Children's Hospital, Melbourne, Australia; Analytic and Translational Genetics Unit (M.L., D.G.M.), Massachusetts General Hospital, Boston; and Department of Neurology (B.U.), Vaasa Central Hospital, Finland.

    Papers in Europe PMC
  3. 03
    Weihl CC10 papers · 2024

    Washington University, St. Louis, MO, USA.

    Papers in Europe PMC
  4. 04
    Hackman P9 papers · 2021

    Folkhälsan Research Center, Helsinki, Finland.

    Papers in Europe PMC
  5. 05
    Jonson PH8 papers · 2021

    Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Huovinen S7 papers · 2021

    Department of Pathology, Fimlab Laboratories, Tampere University Hospital, Tampere, Finland.

    Papers in Europe PMC
  7. 07
    Sarparanta J7 papers · 2021

    Folkhälsan Research Center, Helsinki, Finland and Medicum, University of Helsinki, FI-00290 Helsinki, Finland.

    Papers in Europe PMC
  8. 08
    Savarese M6 papers · 2024

    Folkhälsan Research Center, Helsinki, Finland.

    Papers in Europe PMC
  9. 09
    Tasca G6 papers · 2024

    Neurology Department, Dipartimento di Scienze dell'Invecchiamento, Neurologiche, Ortopediche e della Testa-Collo, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Vihola A6 papers · 2021

    Folkhälsan Research Center, Helsinki, Finland.

    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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial. 24 trials are registered for limb-girdle muscular 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 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.

24 interventional trials matched limb-girdle muscular dystrophy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: limb-girdle muscular dystrophy

24

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

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

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 DNAJB6-related limb-girdle muscular dystrophy D1 — 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.

("DNAJB6-related limb-girdle muscular dystrophy D1" OR "Autosomal dominant limb-girdle muscular dystrophy type 1D" OR "DNAJB6-related LGMD D1" OR "LGMD type 1D" OR "LGMD1D" OR "Limb-girdle muscular dystrophy type 1D" OR "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" OR "LGMD1D (DNAJB6)" OR "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" OR "muscular dystrophy, limb-girdle, autosomal dominant 1") OR ("DNAJB6" OR "DNAJB6 syndrome" OR "DNAJB6-related")

Run this search on Europe PMC

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

"DNAJB6-related limb-girdle muscular dystrophy D1" OR "Autosomal dominant limb-girdle muscular dystrophy type 1D" OR "DNAJB6-related LGMD D1" OR "LGMD type 1D" OR "LGMD1D" OR "Limb-girdle muscular dystrophy type 1D" OR "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" OR "LGMD1D (DNAJB6)" OR "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" OR "muscular dystrophy, limb-girdle, autosomal dominant 1"

Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

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
  • Publication count (1500) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:41:02.403Z