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ORPHA:98911

Distal myotilinopathy

medium confidenceDisorder

Publications

1,759

86.8th percentile

Trials

0

Interventional, condition-specific

Researchers

1,283

Distinct authors in sample

Gene link

MYOT

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare, late adult-onset myofibrillar characterized by distal muscle weakness associated with peripheral and hyporeflexia. Ambulation may be lost within a few years.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

LGMD1A · MYOT autosomal dominant distal myopathy · MYOT autosomal dominant limb-girdle muscular dystrophy · MYOT-related myofibrillar myopathy · autosomal dominant distal myopathy caused by mutation in MYOT · autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT · autosomal dominant limb-girdle muscular dystrophy type 1A · distal myotilinopathy · myofibrillar myopathy type 3 · myopathy, myofibrillar, type 3 · myotilinopathy · spheroid body myopathy

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

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — MYOT

  2. LiteraturePresent

    1,759 matched papers (887 in last 10 years) Source

  3. Phenotype characterisedPresent

    53 HPO annotations (e.g. Gait disturbance; Hyporeflexia; Shoulder 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 trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (MYOT).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

53

Associated phenotypes · MONDO:0012215

  • Gait disturbance
  • Hyporeflexia
  • Shoulder girdle muscle weakness
  • Proximal muscle weakness
  • Pelvic girdle muscle weakness

Showing 5 of 53 — 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?

1,759

1,759 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.

1,759 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).

887 in the last 10 years · medium confidence · 86.8th percentile (publications denominator)

Phrase hits: 1,005 · MeSH hits: 22

Open Europe PMC search

Who's working on it?

1,283

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
    Udd B8 papers · 2025

    Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

    Papers in Europe PMC
  2. 02
    Savarese M6 papers · 2025

    Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

    Papers in Europe PMC
  3. 03
    Hackman P5 papers · 2025

    Folkhälsan Institute of Genetics, Biomedicum Helsinki and Department of Medical Genetics, Haartman Institute, University of Helsinki, Haartmaninkatu 8, 00290, Helsinki, Finland.

    Papers in Europe PMC
  4. 04
    Abderrahim E4 papers · 2026

    Department of Medicine A, Charles Nicolle Hospital, Tunis, Tunisia.

    Papers in Europe PMC
  5. 05
    Chen Y4 papers · 2025

    Department of Radiology, Shandong Provincial Hospital, Shandong University, Jinan, China.

    Papers in Europe PMC
  6. 06
    Ferrer I4 papers · 2019

    Department of Pathology and Experimental Therapeutics, University of Barcelona, IDIBELL-Bellvitge University Hospital, CIBERNED. Hospitalet de LLobregat, Barcelona, Spain.

    Papers in Europe PMC
  7. 07
    Gargah T4 papers · 2026

    1. Service de pédiatrie, hôpital Charles Nicolle / université de Tunis El Manar, Faculté de Médecine de Tunis,

    Papers in Europe PMC
  8. 08
    Bouzid K3 papers · 2026

    Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia.

    Papers in Europe PMC
  9. 09
    Chen W3 papers · 2025

    Department of Neurology, Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, PR China.

    Papers in Europe PMC
  10. 10
    Dos Santos AC3 papers · 2026

    Departamento de Análises Clínicas, Toxicológicas e Bromatológicas, Faculdade de Ciências Farmacêuticas de Ribeirão Preto - FCFRP - USP - Avenida do Café, s/n, Monte Alegre, 14040-903 Ribeirão Preto, SP, Brazil. Electronic address: acsantos@fcfrp.usp.br.

    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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

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.

medium 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Distal myotilinopathy — 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.

("Distal myotilinopathy" OR "LGMD1A" OR "MYOT autosomal dominant distal myopathy" OR "MYOT autosomal dominant limb-girdle muscular dystrophy" OR "MYOT-related myofibrillar myopathy" OR "autosomal dominant distal myopathy caused by mutation in MYOT" OR "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" OR "autosomal dominant limb-girdle muscular dystrophy type 1A" OR "myofibrillar myopathy type 3" OR "myopathy, myofibrillar, type 3" OR "myotilinopathy" OR "spheroid body myopathy") OR (MESH:"Spheroid body myopathy" OR MESH:"Muscular dystrophy, limb-girdle, type 1A" OR MESH:"Myotilinopathy") OR ("MYOT" OR "MYOT syndrome" OR "MYOT-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Spheroid body myopathy; Muscular dystrophy, limb-girdle, type 1A; Myotilinopathy

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

"Distal myotilinopathy" OR "LGMD1A" OR "MYOT autosomal dominant distal myopathy" OR "MYOT autosomal dominant limb-girdle muscular dystrophy" OR "MYOT-related myofibrillar myopathy" OR "autosomal dominant distal myopathy caused by mutation in MYOT" OR "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" OR "autosomal dominant limb-girdle muscular dystrophy type 1A" OR "myofibrillar myopathy type 3" OR "myopathy, myofibrillar, type 3" OR "myotilinopathy" OR "spheroid body myopathy" OR "Muscular dystrophy, limb-girdle, type 1A"

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

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • "LGMD1A" also appears on ORPHA:266
  • "autosomal dominant limb-girdle muscular dystrophy type 1A" also appears on ORPHA:266
  • "spheroid body myopathy" also appears on ORPHA:268129

Ingested 2026-07-27T05:42:41.941Z