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ORPHA:34514

Telethonin-related limb-girdle muscular dystrophy R7

low confidenceDisorder

Also known as: Autosomal recessive limb-girdle muscular dystrophy type 2G · LGMD due to telethonin deficiency · LGMD type 2G · LGMD2G · Limb-girdle muscular dystrophy due to telethonin deficiency · Limb-girdle muscular dystrophy type 2G · Telethonin-related LGMD R7

Publications

2,300

Trials

0

Interventional, condition-specific

Researchers

962

Distinct authors in sample

Gene link

TCAP

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A mild subtype of limb-girdle muscular characterized by a variable onset (ranging from infancy to adolescence) of proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also 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 (7)

TCAP autosomal recessive limb-girdle muscular dystrophy · Tcap autosomal recessive limb-girdle muscular dystrophy · autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP · autosomal recessive limb-girdle muscular dystrophy caused by mutation in Tcap · limb-girdle muscular dystrophy due to telethonin deficiency · muscular dystrophy, limb-girdle, autosomal recessive 7 · muscular dystrophy, limb-girdle, type 2G

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 — TCAP

  2. LiteraturePresent

    2,300 matched papers (1,426 in last 10 years) Source

  3. Phenotype characterisedPresent

    16 HPO annotations (e.g. Muscular dystrophy; Distal lower limb muscle weakness; Proximal upper limb 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 (TCAP).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

16

Associated phenotypes · MONDO:0011170

  • Muscular dystrophy
  • Distal lower limb muscle weakness
  • Proximal upper limb muscle weakness
  • Areflexia of lower limbs
  • Increased variability in muscle fiber diameter

Showing 5 of 16 — 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?

2,300

2,300 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.

2,300 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).

1,426 in the last 10 years · low confidence

Phrase hits: 149 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

962

Distinct author names in 149 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
    Vainzof M11 papers · 2016

    Human Genome Research Centre, Department of Biology, IBUSP, University of São Paulo, São Paulo, Sao Paulo - CEP, 05508-900, SP Brazil.

    Papers in Europe PMC
  2. 02
    Zatz M10 papers · 2016

    Human Genome and Research Center (HUG-CELL), Instituto de Biociências, Universidade de São Paulo (USP), São Paulo, SP, Brazil.

    Papers in Europe PMC
  3. 03
    Passos-Bueno MR9 papers · 2016

    Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil.

    Papers in Europe PMC
  4. 04
    Moreira ES7 papers · 2003

    Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.

    Papers in Europe PMC
  5. 05
    Nigro V7 papers · 2018

    Dipartimento di Patologia Generale e Centro di Eccellenza sulle Malattie Cardiovascolari, Seconda Università degli Studi di Napoli, Telethon Institute of Genetics and Medicine (TIGEM), Napoli, Italy. vincenzo.nigro@unina2.it

    Papers in Europe PMC
  6. 06
    Emerson CP6 papers · 2026

    Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Chan Medical School, Worcester, United States.

    Papers in Europe PMC
  7. 07
    Faulkner G6 papers · 2011
    Papers in Europe PMC
  8. 08
    Guo D6 papers · 2026

    Wellstone Muscular Dystrophy Program, Department of Neurology, University of Massachusetts Chan Medical School, Worcester, United States.

    Papers in Europe PMC
  9. 09
    Straub V6 papers · 2024

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

    Papers in Europe PMC
  10. 10
    Beckmann JS5 papers · 2024

    Service and Department of Medical Genetics, Centre Hospitalier Universitaire Vaudois, CHUV and Faculty of Biology and Medicine, University of Lausanne, Lausanne, Switzerland. jacques.beckmann@chuv.ch

    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 Telethonin-related limb-girdle muscular dystrophy R7 — 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.

("Telethonin-related limb-girdle muscular dystrophy R7" OR "Autosomal recessive limb-girdle muscular dystrophy type 2G" OR "LGMD due to telethonin deficiency" OR "LGMD type 2G" OR "LGMD2G" OR "Limb-girdle muscular dystrophy due to telethonin deficiency" OR "Limb-girdle muscular dystrophy type 2G" OR "Telethonin-related LGMD R7" OR "TCAP autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" OR "muscular dystrophy, limb-girdle, autosomal recessive 7" OR "muscular dystrophy, limb-girdle, type 2G") OR ("TCAP" OR "TCAP syndrome" OR "TCAP-related")

Run this search on Europe PMC

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

"Telethonin-related limb-girdle muscular dystrophy R7" OR "Autosomal recessive limb-girdle muscular dystrophy type 2G" OR "LGMD due to telethonin deficiency" OR "LGMD type 2G" OR "LGMD2G" OR "Limb-girdle muscular dystrophy due to telethonin deficiency" OR "Limb-girdle muscular dystrophy type 2G" OR "Telethonin-related LGMD R7" OR "TCAP autosomal recessive limb-girdle muscular dystrophy" OR "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" OR "muscular dystrophy, limb-girdle, autosomal recessive 7" OR "muscular dystrophy, limb-girdle, type 2G"

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 (2300) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-26T23:40:16.612Z