ORPHA:59135
Laing distal myopathy
Also known as: Distal myopathy type 1 · MPD1
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
131
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,010
Distinct authors in sample
Gene link
MYH7
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare distal characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement.
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:0008050
- OMIM:160500
- UMLS:C4552004
Additional Mondo synonyms (7)
MYH7-related skeletal myopathy · distal myopathy type 1 · myopathy distal, type 1 · myopathy, distal, 1 · myopathy, distal, early-onset, autosomal dominant · myopathy, distal, type 1 · myopathy, late distal hereditary
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
Definitive — MYH7
- LiteraturePresent
131 matched papers (79 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; 4 for broader category distal myopathy
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 (MYH7).
GenCC classification: Definitive.
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?
131
131 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.
131 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).
79 in the last 10 years · medium confidence · 62.4th percentile (publications denominator)
Phrase hits: 131 · MeSH hits: 0
Who's working on it?
1,010
Distinct author names in 131 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.
- 01Laing NG8 papers · 2024
1 Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.
Papers in Europe PMC - 02Udd B8 papers · 2021
Folkhälsan Research Center (P.H., S.M.R., M.J., A.V., P.H.J., J.S., S.K., H.L., M.S., M.A., M.S., B.U.); University of Helsinki (S.M.R., M.J., A.V., P.H.J., J.S., S.K., H.L., M.S., M.A., M.S.), Helsinki; Finnish Neuromuscular Center, Fimlab Laboratories and Tampere University (A.V.); Institute for Molecular Medicine Finland (FIMM), University of Helsinki (K.D., P.L.); MRC, University of Oulu, Oulu (I.M.); Pietarsaari Hospital, Pietarsaari, Finland (I.M.); Clinical Neurosciences, Neurology, Helsinki University Hospital (M.A.); Vaasa Central Hospital (B.U.), Vaasa, Finland.
Papers in Europe PMC - 03Buvoli A6 papers · 2024
Department of Molecular, Cellular, and Developmental Biology and Bio Frontiers Institute, University of Colorado, Boulder, CO 80309;
Papers in Europe PMC - 04Buvoli M6 papers · 2024
Department of Molecular, Cellular, and Developmental Biology and Bio Frontiers Institute, University of Colorado, Boulder, CO 80309;
Papers in Europe PMC - 05Leinwand LA6 papers · 2024
Department of Molecular, Cellular, and Developmental Biology and Bio Frontiers Institute, University of Colorado, Boulder, CO 80309; cui@chem.wisc.edu Leslie.Leinwand@colorado.edu ivan_rayment@biochem.wisc.edu.
Papers in Europe PMC - 06Bönnemann CG5 papers · 2025
2 National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Centre, Bethesda, MD, USA carsten.bonnemann@nih.gov.
Papers in Europe PMC - 07Muelas N4 papers · 2021
Neuromuscular Division, Department of Neurology and Medical Genetics, Hospital La Fe, Valencia, Spain
Papers in Europe PMC - 08Romero NB4 papers · 2025
Neuromuscular Morphology Unit, Myology Institute, Groupe Hospitalier Universitaire La Pitié-Salpêtrière, Paris, France Inserm, U974, Paris, France University Pierre et Marie Curie- Paris 6, UM 76, CNRS, UMR 7215, Myology Institute, IFR14, Paris, France Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU La Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
Papers in Europe PMC - 09Suominen T4 papers · 2014
Department of Neurology, Tampere University Hospital and Vaasa Central Hospital, Finland
Papers in Europe PMC - 10Tajsharghi H4 papers · 2020
Department of Pathology, Institute of Biomedicine, University of Gothenburg, Sahlgrenska University Hospital, 413 45 Gothenburg, Sweden.
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). 4 trials are registered for distal myopathy, 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.
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.
4 interventional trials matched distal myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: distal myopathy
4
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.
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.
"Laing distal myopathy" OR "Distal myopathy type 1" OR "MYH7-related skeletal myopathy" OR "myopathy distal, type 1" OR "myopathy, distal, 1" OR "myopathy, distal, early-onset, autosomal dominant" OR "myopathy, distal, type 1" OR "myopathy, late distal hereditary"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Laing distal myopathy" OR "Distal myopathy type 1" OR "MYH7-related skeletal myopathy" OR "myopathy distal, type 1" OR "myopathy, distal, 1" OR "myopathy, distal, early-onset, autosomal dominant" OR "myopathy, distal, type 1" OR "myopathy, late distal hereditary" OR "MYH7"
Recall-expansion terms: MYH7
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"distal myopathy"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MPD1
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T01:00:38.360Z