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ORPHA:636965

Autosomal dominant myosin storage myopathy

medium confidenceSubtype of disorder

Also known as: MSMA

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

Publications

58

30.9th percentile

Trials

0

Interventional, condition-specific

Researchers

406

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

MYH7-related late-onset SPMD · MYH7-related late-onset scapuloperoneal muscular dystrophy · MYH7-related late-onset scapuloperoneal syndrome · MYH7-related scapuloperoneal myopathy · SPMD · SPMM · autosomal dominant myosin storage myopathy · myopathy with lysis of type 1 myofibrils · myopathy, hyaline body, autosomal dominant · myopathy, myosin storage, autosomal dominant · scapuloperoneal muscular dystrophy · scapuloperoneal myopathy, MYH7-related · scapuloperoneal syndrome, myopathic type

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    58 matched papers (13 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Waddling gait; Falls; EMG: myopathic abnormalities) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 182 for broader category 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0008409

  • Waddling gait
  • Falls
  • EMG: myopathic abnormalities
  • Myopathy
  • Difficulty climbing stairs

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

58

58 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=3967) is 59.

58 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).

13 in the last 10 years · medium confidence · 30.9th percentile (publications denominator)

Phrase hits: 58 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

406

Distinct author names in 58 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
    Kimonis VE4 papers · 2015

    Department of Pediatrics, Division of Genetics and Metabolism, University of California, Irvine, California, United States of America; Sue and Bill Gross Stem Cell Center, University of California, Irvine, California, United States of America.

    Papers in Europe PMC
  2. 02
    Pericak-Vance MA3 papers · 2002
    Papers in Europe PMC
  3. 03
    Berciano J2 papers · 2010
    Papers in Europe PMC
  4. 04
    Bönnemann CG2 papers · 2025

    Neuromuscular and Neurogenetic Disorders of Childhood Section, NIH, National Institute of Neurological Disorders, Bethesda, USA.

    Papers in Europe PMC
  5. 05
    Donkervoort S2 papers · 2025

    Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine Medical Center, 101 The City Drive South, ZC4482, Orange, CA 92868, United States; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, United States.

    Papers in Europe PMC
  6. 06
    Engel AG2 papers · 2013
    Papers in Europe PMC
  7. 07
    Fratta P2 papers · 2020

    Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, University College London, London, United Kingdom.

    Papers in Europe PMC
  8. 08
    Goyal N2 papers · 2018

    Neuromuscular Program, Department of Neurology, University of California, Irvine, Orange, California.

    Papers in Europe PMC
  9. 09
    KAUFMAN STEPHEN J2 papers · 2005
    Papers in Europe PMC
  10. 10
    Kimonis V2 papers · 2018

    Division of Genetics and Genomic Medicine, Department of Pediatrics, University of California, Irvine, Orange, California.

    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). 182 trials are registered for myopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

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.

182 interventional trials matched myopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myopathy

182

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 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 Autosomal dominant myosin storage myopathy — 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.

"Autosomal dominant myosin storage myopathy" OR "MYH7-related late-onset SPMD" OR "MYH7-related late-onset scapuloperoneal muscular dystrophy" OR "MYH7-related late-onset scapuloperoneal syndrome" OR "MYH7-related scapuloperoneal myopathy" OR "myopathy with lysis of type 1 myofibrils" OR "myopathy with lysis of the type 1 myofibrils" OR "myopathy, hyaline body, autosomal dominant" OR "myopathy, myosin storage, autosomal dominant" OR "scapuloperoneal muscular dystrophy" OR "scapuloperoneal myopathy, MYH7-related" OR "scapuloperoneal syndrome, myopathic type"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: [OBSOLETE] Myopathy, Myosin Storage

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

"Autosomal dominant myosin storage myopathy" OR "MYH7-related late-onset SPMD" OR "MYH7-related late-onset scapuloperoneal muscular dystrophy" OR "MYH7-related late-onset scapuloperoneal syndrome" OR "MYH7-related scapuloperoneal myopathy" OR "myopathy with lysis of type 1 myofibrils" OR "myopathy with lysis of the type 1 myofibrils" OR "myopathy, hyaline body, autosomal dominant" OR "myopathy, myosin storage, autosomal dominant" OR "scapuloperoneal muscular dystrophy" OR "scapuloperoneal myopathy, MYH7-related" OR "scapuloperoneal syndrome, myopathic type" OR "[OBSOLETE] Myopathy, Myosin Storage"

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

Parent-category trials query:

"myopathy"

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: MSMA; SPMD; SPMM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 3 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T19:29:56.707Z