Evidence map›Paper›PMID 39950184›Full record

ArticleJIMD reports2025

2-[

Astrid Høj, Sonja Holm-Yildiz, Thomas Krag, Danijela Dejanovic, Thomas van Overeem Hansen, Morten Dunø, Mette Cathrine Ørngreen, John Vissing, Nicoline Løkken

Abstract read
In one paragraph

Article in JIMD reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Astrid HøjDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.ORCID https://orcid.org/0009-0000-6594-422X
Sonja Holm-YildizDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.
Thomas KragDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.
Danijela DejanovicDepartment of Clinical Physiology, Nuclear Medicine, and PET, Rigshospitalet University of Copenhagen Copenhagen Denmark.
Thomas van Overeem HansenDepartment of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen Copenhagen Denmark.
Morten DunøDepartment of Clinical Genetics, Molecular Genetic Laboratory, Rigshospitalet University of Copenhagen Copenhagen Denmark.
Mette Cathrine ØrngreenDepartment of Paediatrics and Adolescent Medicine Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.
John VissingDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.
Nicoline LøkkenDepartment of Neurology, Copenhagen Neuromuscular Centre Copenhagen University Hospital, Rigshospitalet Copenhagen Denmark.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn metabolic myopathy affecting fat and protein metabolism. Patients with late-onset MADD typically present with exercise intolerance and muscle weakness. We present a patient with an acute, very late-onset symptom debut at 52 years of age. Over 5 months, the patient deteriorated from asymptomatic to almost complete loss of ambulation. He had a substantial weight loss, head-drop, progressive proximal limb and chewing weakness. Due to the rapid progression, amyotrophic lateral sclerosis, myositis, myasthenia gravis and a paraneoplastic syndrome in relation to underlying malignancy were considered first. A 2-[

Indexed as

FDG PET/CTlipid myopathyMADDmetabolic myopathymultiple acyl coenzyme‐A dehydrogenase deficiencymuscle biopsy

Identifiers

PMID39950184
PMCPMC11821449

What OpenQuestion holds

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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.