ORPHA:206549
Anoctamin-5-related limb-girdle muscular dystrophy R12
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
Publications
202
70.1th percentile
Trials
0
Interventional, condition-specific
Researchers
1,957
Distinct authors in sample
Gene link
ANO5
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0012652
- MeSH:C566968
- OMIM:611307
- UMLS:C1969785
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Strong — ANO5
- LiteraturePresent
202 matched papers (124 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 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)
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?
202
202 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.
202 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).
124 in the last 10 years · high confidence · 70.1th percentile (publications denominator)
Phrase hits: 202 · MeSH hits: 0
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.
- 01Maggi L12 papers · 2023
Neuroimmunology and Neuromuscular Disease Unit, Foundation IRCCS Carlo Besta Neurological Institute , Milano, Italy
Papers in Europe PMC - 02Vissing J11 papers · 2025
Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Papers in Europe PMC - 03
- 04Santorelli F10 papers · 2022
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris , Pisa, Italy
Papers in Europe PMC - 05Straub V10 papers · 2024
Institute of Human Genetics, University of Newcastle upon Tyne, United Kingdom. volker.straub@ncl.ac.uk
Papers in Europe PMC - 06Mongini T9 papers · 2022
Department of Neurosciences Rita Levi Montalcini, Università degli Studi di Torino , Torino, Piemonte, Italy
Papers in Europe PMC - 07Comi G8 papers · 2022
Neuromuscular and Rare Disease Unit, La Fondazione IRCCS Ca’ Granda Ospedale Maggiore di Milano Policlinico , Milano, Italy
Papers in Europe PMC - 08Filosto 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 - 09
- 10Hartzell 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. 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 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.
high 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.
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
- NCT07711730·RECRUITING·Telecare Psychosocial and Cognitive Intervention for Children and Adolescents With Limb-Girdle Muscular Dystrophy
Conditions: Limb-Girdle Muscular Dystrophy · Social Competence · Self Esteem · Health Related Quality of Life·Matched via name phrase
- NCT05230459·RECRUITING·A Study to Evaluate the Safety of AB-1003 (Previously LION-101) in Subjects With Genetic Confirmation of LGMD2I/R9 (Part1)
Conditions: Limb Girdle Muscular Dystrophy · Limb-Girdle Muscular Dystrophy Type 2 · LGMD2I · Muscular Dystrophy·Matched via name phrase
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
- NCT05989620·RECRUITING·Long-Term Development of Muscular Dystrophy Outcome Assessments
Conditions: LGMD1B · LGMD1C · LGMD1D · LGMD1E·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.
"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"
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" OR "ANO5" OR "autosomal recessive limb-girdle muscular dystrophy"
Recall-expansion terms: ANO5, autosomal recessive limb-girdle muscular dystrophy
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, mesh, recall-expansion; with hits: phrase, recall-expansion
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