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ORPHA:53698

Myosin storage myopathy

high confidenceDisorder

Also known as: Hyaline body myopathy

Publications

179

64.2th percentile

Trials

1

Interventional, condition-specific

Researchers

1,104

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare characterized by generalized proximal and distal muscle weakness and/or atrophy with slow progression. A subset of patients present with scapuloperoneal weakness and scapular winging. Disease onset usually occurs during infancy/childhood, but adult-onset cases have also been reported. Patients may have respiratory problems and/or . Muscle biopsies show hyaline body inclusions in type I fibers.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

myosin storage 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

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

    179 matched papers (88 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

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)

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?

179

179 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.

179 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).

88 in the last 10 years · high confidence · 64.2th percentile (publications denominator)

Phrase hits: 179 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,104

Distinct author names in 179 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
    Laing NG16 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
  2. 02
    Oldfors A12 papers · 2026

    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  3. 03
    Tajsharghi H12 papers · 2020

    Department of Pathology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden.

    Papers in Europe PMC
  4. 04
    Goebel HH11 papers · 2023

    University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany. goebel@neuropatho.klinik.uni-mainz.de

    Papers in Europe PMC
  5. 05
    Udd B6 papers · 2020

    1] Neuromuscular Research Unit, Tampere University and Hospital, Tampere, Finland [2] Department of Neurology, Vasa Central Hospital, Vasa, Finland [3] Department of Medical Genetics, Folkhälsan Genetic Institute, Helsinki University, Helsinki, Finland.

    Papers in Europe PMC
  6. 06
    Bönnemann CG5 papers · 2015

    2 National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Centre, Bethesda, MD, USA carsten.bonnemann@nih.gov.

    Papers in Europe PMC
  7. 07
    Leinwand LA5 papers · 2016

    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, CO, 80309-0347, USA.

    Papers in Europe PMC
  8. 08
    Romero NB5 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
  9. 09
    Dye DE4 papers · 2006

    Molecular Neurogenetics Laboratory, Centre for Medical Research, West Australian Institute for Medical Research, University of Western Australia M519, 'B' Block, Queen Elizabeth II Medical Centre, Nedlands, WA 6009, Australia.

    Papers in Europe PMC
  10. 10
    Fiorillo C4 papers · 2023

    Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.

    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; none in our sample are currently recruiting. 180 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Broader category: myopathy

180

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

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 2026-07-26

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.

"Myosin storage myopathy" OR "Hyaline body myopathy"

Run this search on Europe PMC

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

"Myosin storage myopathy" OR "Hyaline body myopathy"

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:

"myopathy"

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

Ingested 2026-07-27T00:54:10.625Z