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ORPHA:65684

Monomelic amyotrophy

high confidenceDisorder

Also known as: Benign focal amyotrophy · Hirayama disease · JMADUE · Juvenile muscular atrophy of distal upper extremity · Juvenile muscular atrophy of the distal upper limb

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

Publications

747

81.3th percentile

Trials

1

Interventional, condition-specific

Researchers

851

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Monomelic amyotrophy (MA) is a rare benign lower motor neuron disorder characterized by muscular weakness and wasting in the distal upper extremities during adolescence followed by a spontaneous halt in progression and a stabilization of symptoms.

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 (3)

benign focal amyotrophy · juvenile muscular atrophy of distal upper extremity · juvenile muscular atrophy of the distal upper limb

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

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

    747 matched papers (418 in last 10 years) Source

  3. Phenotype characterisedPresent

    30 HPO annotations (e.g. Interosseus muscle atrophy; EMG: neuropathic changes; Upper limb muscle weakness) 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 trialPresent

    1 matched on ClinicalTrials.gov (1 recruiting in sample)

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)

30

Associated phenotypes · MONDO:0011224

  • Interosseus muscle atrophy
  • EMG: neuropathic changes
  • Upper limb muscle weakness
  • Cold paresis
  • Fasciculations

Showing 5 of 30 — 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?

747

747 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.

747 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).

418 in the last 10 years · high confidence · 81.3th percentile (publications denominator)

Phrase hits: 747 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

851

Distinct author names in 200 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
    Jiang J12 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, 12 Mid-Wulumuqi Road, Shanghai, 200040, China. Jianyuanjiang05@126.com.

    Papers in Europe PMC
  2. 02
    Wang H12 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, 12 Mid-Wulumuqi Road, Shanghai, 200040, China.

    Papers in Europe PMC
  3. 03
    Sun C8 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, 12 Mid-Wulumuqi Road, Shanghai, 200040, China.

    Papers in Europe PMC
  4. 04
    Xia X8 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  5. 05
    Lyu F7 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, 12 Mid-Wulumuqi Road, Shanghai, 200040, China.

    Papers in Europe PMC
  6. 06
    Ma X7 papers · 2025

    Department of Orthopedics, Huashan Hospital, Fudan University, Shanghai, China.

    Papers in Europe PMC
  7. 07
    Nalini A7 papers · 2026

    a Clinical Neurosciences.

    Papers in Europe PMC
  8. 08
    Pandey A6 papers · 2024

    Kathmandu University School of Medical Sciences, Dhulikhel Hospital.

    Papers in Europe PMC
  9. 09
    Zheng C6 papers · 2023

    Department of Orthopedics, Huashan Hospital, Fudan University, 12 Mid-Wulumuqi Road, Shanghai, 200040, China. CJZheng17@fudan.edu.cn.

    Papers in Europe PMC
  10. 10
    Finsterer J5 papers · 2025

    Department of Neurology, Neurology and Neurophysiology Centre, Vienna, Austria.

    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; 1 currently recruiting in our sample.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th 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.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 Monomelic amyotrophy — 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.

"Monomelic amyotrophy" OR "Benign focal amyotrophy" OR "Hirayama disease" OR "JMADUE" OR "Juvenile muscular atrophy of distal upper extremity" OR "Juvenile muscular atrophy of the distal upper extremity" OR "Juvenile muscular atrophy of the distal upper limb" OR "Juvenile muscular atrophy of distal upper limb"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Amyotrophy, monomelic

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

"Monomelic amyotrophy" OR "Benign focal amyotrophy" OR "Hirayama disease" OR "JMADUE" OR "Juvenile muscular atrophy of distal upper extremity" OR "Juvenile muscular atrophy of the distal upper extremity" OR "Juvenile muscular atrophy of the distal upper limb" OR "Juvenile muscular atrophy of distal upper limb" OR "Amyotrophy, monomelic"

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 · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; 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 2026-07-27T01:18:48.519Z