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ORPHA:206549

Anoctamin-5-related limb-girdle muscular dystrophy R12

high confidenceDisorder

Also known as: Anoctamin-5-related LGMD R12 · Autosomal recessive limb-girdle muscular dystrophy type 2L · LGMD type 2L · LGMD2L · Limb-girdle muscular dystrophy type 2L

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

965

86.3th percentile

Trials

0

Interventional, condition-specific

Researchers

1,957

Distinct authors in sample

Gene link

ANO5

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A form of limb-girdle muscular most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common, as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. Calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood.

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 (4)

ANO5 autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5 · muscular dystrophy, limb-girdle, autosomal recessive 12 · muscular dystrophy, limb-girdle, type 2L

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 — ANO5

  2. LiteraturePresent

    965 matched papers (768 in last 10 years) Source

  3. Phenotype characterisedPresent

    46 HPO annotations (e.g. Elbow flexion contracture; Hamstring contractures; Upper limb amyotrophy) 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 (ANO5).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

46

Associated phenotypes · MONDO:0012652

  • Elbow flexion contracture
  • Hamstring contractures
  • Upper limb amyotrophy
  • Facial palsy
  • Myalgia

Showing 5 of 46 — 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?

965

965 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.

965 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).

768 in the last 10 years · high confidence · 86.3th percentile (publications denominator)

Phrase hits: 202 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,957

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
    Maggi L12 papers · 2023

    Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute , Milano, Italy

    Papers in Europe PMC
  2. 02
    Vissing J11 papers · 2025

    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

    Papers in Europe PMC
  3. 03
    Bruno C10 papers · 2022

    Centre of Translational and Experimental Myology

    Papers in Europe PMC
  4. 04
    Santorelli F10 papers · 2022

    Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , Pisa, Italy

    Papers in Europe PMC
  5. 05
    Straub V10 papers · 2024

    Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom. volker.straub@ncl.ac.uk

    Papers in Europe PMC
  6. 06
    Mongini T9 papers · 2022

    Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino , Torino, Piemonte, Italy

    Papers in Europe PMC
  7. 07
    Comi G8 papers · 2022

    Neuromuscular and Rare Disease Unit, La Fondazione IRCCS Ca’ Granda Ospedale Maggiore di Milano Policlinico , Milano, Italy

    Papers in Europe PMC
  8. 08
    Filosto M8 papers · 2022

    ERN-EURO NMD Center for Neuromuscular Diseases and Unit of Neurology, Azienda Ospedaliera Spedali Civili di Brescia , Brescia, Lombardia, Italy

    Papers in Europe PMC
  9. 09
    Fiorillo C8 papers · 2022

    Pediatric Neurology and Muscle Disease Unit

    Papers in Europe PMC
  10. 10
    Hartzell HC8 papers · 2023

    Department of Cell Biology, School of Medicine, Emory University, Atlanta, Georgia.

    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. 1 observational study 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.

high 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

1 observational study matches 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 2026-07-30

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 Anoctamin-5-related limb-girdle muscular dystrophy R12 — 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.

("Anoctamin-5-related limb-girdle muscular dystrophy R12" OR "Anoctamin-5-related LGMD R12" OR "Autosomal recessive limb-girdle muscular dystrophy type 2L" OR "LGMD type 2L" OR "LGMD2L" OR "Limb-girdle muscular dystrophy type 2L" OR "ANO5 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" OR "muscular dystrophy, limb-girdle, autosomal recessive 12" OR "muscular dystrophy, limb-girdle, type 2L") OR (MESH:"Muscular Dystrophy, Limb-Girdle, Type 2L") OR ("ANO5" OR "ANO5 syndrome" OR "ANO5-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Limb-Girdle, Type 2L

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

"Anoctamin-5-related limb-girdle muscular dystrophy R12" OR "Anoctamin-5-related LGMD R12" OR "Autosomal recessive limb-girdle muscular dystrophy type 2L" OR "LGMD type 2L" OR "LGMD2L" OR "Limb-girdle muscular dystrophy type 2L" OR "ANO5 autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" OR "muscular dystrophy, limb-girdle, autosomal recessive 12" OR "muscular dystrophy, limb-girdle, type 2L"

Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"limb-girdle muscular dystrophy"

Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T09:19:06.019Z