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ORPHA:157973

Congenital muscular dystrophy due to LMNA mutation

low confidenceDisorder

Also known as: L-CMD · LMNA-related congenital muscular dystrophy

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

Publications

3,051

Trials

1

Interventional, condition-specific

Researchers

1,371

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare muscular characterized by prominent axial , predominantly proximal muscle weakness in upper limbs and distal in lower limbs, joint contractures (initially distal, later proximal), spinal rigidity, and respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have also been reported.

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)

LMNA congenital muscular dystrophy · congenital muscular dystrophy caused by mutation in LMNA · muscular dystrophy Congenital, LMNA-related · muscular dystrophy, congenital

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

    3,051 matched papers (1,409 in last 10 years) Source

  3. Phenotype characterisedPresent

    52 HPO annotations (e.g. Hypotonia; Gait disturbance; Flexion contracture) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

52

Associated phenotypes · MONDO:0013178

  • Hypotonia
  • Gait disturbance
  • Flexion contracture
  • Congestive heart failure
  • Talipes

Showing 5 of 52 — 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?

3,051

3,051 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.

3,051 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).

1,409 in the last 10 years · low confidence

Phrase hits: 3,051 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,371

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
    Bonne G11 papers · 2025

    Sorbonne Université, INSERM UMRS_974, Center of Research in Myology, 75013, Paris, France.

    Papers in Europe PMC
  2. 02
    Sarquella-Brugada G6 papers · 2026

    Medical Science Department, School of Medicine, University of Girona, Girona, Spain.

    Papers in Europe PMC
  3. 03
    Bönnemann CG5 papers · 2024

    National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: carsten.bonnemann@nih.gov.

    Papers in Europe PMC
  4. 04
    Cesar S5 papers · 2026

    Pediatric Arrhythmias, Inherited Cardiac Diseases and Sudden Death Unit, Hospital Sant Joan de Déu, Barcelona, Spain.

    Papers in Europe PMC
  5. 05
    Komaki H5 papers · 2026

    1Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.

    Papers in Europe PMC
  6. 06
    Muntoni F5 papers · 2026

    The Dubowitz Neuromuscular Centre, University College London, and MRC Centre for Neuromuscular Diseases, Neurosciences Unit, Great Ormond Street Hospital, United Kingdom.

    Papers in Europe PMC
  7. 07
    Nascimento A5 papers · 2024

    Department of Pediatrics, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  8. 08
    Xiong H5 papers · 2024

    Email: xh_bjbj@163.com.

    Papers in Europe PMC
  9. 09
    Ben Yaou R4 papers · 2021

    Sorbonne Université, Inserm, Center of Research in Myology, G.H. Pitié-Salpêtrière, Paris, France.

    Papers in Europe PMC
  10. 10
    Bertrand AT4 papers · 2020

    Sorbonne Université, Inserm, Center of Research in Myology, Institute of Myology, F-75013 Paris, France.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample. 6 trials are registered for congenital muscular dystrophy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: congenital muscular dystrophy

6

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

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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).

Uncertain / not reviewed (1)

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 Congenital muscular dystrophy due to LMNA mutation — 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.

"Congenital muscular dystrophy due to LMNA mutation" OR "L-CMD" OR "LMNA-related congenital muscular dystrophy" OR "LMNA congenital muscular dystrophy" OR "congenital muscular dystrophy caused by mutation in LMNA" OR "muscular dystrophy Congenital, LMNA-related" OR "muscular dystrophy, congenital"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Muscular Dystrophy, Congenital, Lmna-Related

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

"Congenital muscular dystrophy due to LMNA mutation" OR "L-CMD" OR "LMNA-related congenital muscular dystrophy" OR "LMNA congenital muscular dystrophy" OR "congenital muscular dystrophy caused by mutation in LMNA" OR "muscular dystrophy Congenital, LMNA-related" OR "muscular dystrophy, congenital" OR "Muscular Dystrophy, Congenital, Lmna-Related"

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: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"congenital 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
  • Publication count (3051) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T08:03:42.792Z