ORPHA:98911
Distal myotilinopathy
Publications
1,005
87.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,283
Distinct authors in sample
Gene link
MYOT
Strong
Readiness
2/6
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.
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.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — MYOT
- LiteraturePresent
1,005 matched papers (390 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 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)
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?
1,005
1,005 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=5449) is 41.
1,005 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).
390 in the last 10 years · medium confidence · 87.9th percentile (publications denominator)
Phrase hits: 1,005 · MeSH hits: 22
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.
- 01Udd 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 - 02Savarese 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 - 03Hackman 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 - 04Abderrahim E4 papers · 2026
Department of Medicine A, Charles Nicolle Hospital, Tunis, Tunisia.
Papers in Europe PMC - 05Chen Y4 papers · 2025
Department of Radiology, Shandong Provincial Hospital, Shandong University, Jinan, China.
Papers in Europe PMC - 06Ferrer 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 - 07Gargah T4 papers · 2026
1. Service de pédiatrie, hôpital Charles Nicolle / université de Tunis El Manar, Faculté de Médecine de Tunis,
Papers in Europe PMC - 08Bouzid K3 papers · 2026
Faculty of Medicine of Tunis, El Manar University, Tunis, Tunisia.
Papers in Europe PMC - 09Chen 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 - 10Dos 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 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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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.
"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"
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" OR "MYOT" OR "autosomal dominant distal myopathy"
Recall-expansion terms: MYOT, autosomal dominant distal myopathy
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; 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