Evidence map›Paper›PMID 38972019›Full record

Observational studyJournal of neurology2024

Muscle MRI as a biomarker of disease activity and progression in myotonic dystrophy type 1: a longitudinal study.

Laura Fionda, Luca Leonardi, Laura Tufano, Antonio Lauletta, Stefania Morino, Gioia Merlonghi, Rocco Costanzo, Elena Rossini, Francesca Forcina, Demetrio Marando and 5 more

Erratum issuedAbstract readObservational Study
PubMed Full text at PMC Publisher
In one paragraph

Observational study in Journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing 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

5 citing papers in PubMed.

  1. Article
  2. Review
  3. Observational
  4. Review
  5. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Laura FiondaNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy. laura.fionda@uniroma1.it.ORCID http://orcid.org/0000-0002-8813-2272
Luca LeonardiNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Laura TufanoDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Antonio LaulettaDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Stefania MorinoNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Gioia MerlonghiDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Rocco CostanzoDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Elena RossiniNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Francesca ForcinaNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Demetrio MarandoNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
David Sarzi AmadèDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Elisabetta BucciNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Marco SalvettiNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.
Giovanni AntoniniDepartment of Neuroscience, Mental Health and Sensory Organs (NESMOS), SAPIENZA University of Rome, Rome, Italy.
Matteo GaribaldiNeuromuscular and Rare Disease Centre, Neurology Unit, Sant'Andrea Hospital, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMyotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by myotonia and progressive muscular weakness and atrophy. The aim of this study was to investigate the usefulness of longitudinal muscle MRI in detecting disease activity and progression in DM1, and to better characterize muscle edema, fat replacement and atrophy overtime. MATERIALS AND

methodsThis is a prospective, observational, longitudinal study including 25 DM1 patients that performed at least two muscle MRIs. Demographic and genetic characteristics were recorded. Muscular Impairment Rating Scale (MIRS) and MRC score were performed within 3 months from MRIs at baseline (BL) and at follow-up (FU). We analysed 32 muscles of lower body (LB) and 17 muscles of upper body (UB) by T1 and STIR sequences. T1-, STIR- and atrophy scores and their variations were evaluated. Correlations between MRIs' scores and demographic, clinical and genetic characteristics were analysed.

resultsEighty (80%) of patients showed fat replacement progression at FU. The median T1 score progression (ΔT1-score) was 1.3% per year in LB and 0.5% per year in UB. The rate of fat replacement progression was not homogenous, stratifying patients from non-progressors to fast progressors (> 3% ΔT1-score per year). Half of the STIR-positive muscles at BL showed T1-score progression at FU. Two patients with normal MRI at baseline only showed STIR-positive muscle at FU, marking the disease activity onset. STIR positivity at baseline correlated with fat replacement progression (ΔT1-score; p < 0.0001) and clinical worsening at FU (ΔMRC-score; p < 0.0001). Sixty-five (65%) of patients showed STIR- and fat replacement-independent muscle atrophy progression, more evident in UB.

conclusionsMuscle MRI represents a sensitive biomarker of disease activity, severity, and progression in DM1. STIR alterations precede fat replacement and identify patients with a higher risk of disease progression, while T1-sequences reveal atrophy and fat replacement progression before clinical worsening.

Indexed as

Disease ProgressionMagnetic Resonance ImagingMuscle, SkeletalMyotonic DystrophyAdultBiomarkersFemaleHumansLongitudinal StudiesMaleMiddle AgedProspective StudiesSeverity of Illness IndexYoung AdultBiomarkersBiomarkersLongitudinal studyMuscle MRIMyotonic dystrophy type 1

Identifiers

PMID38972019
PMCPMC11377679

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Registered trials

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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.