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Medicina
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Duchenne Muscular Dystrophy: MR Imaging and Genetic Findings
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Duchenne Muscular Dystrophy: MR Imaging and Genetic Findings

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Neurology".

Deadline for manuscript submissions: closed (30 September 2021) | Viewed by 5661

Special Issue Editors

Dr. Claudia Brogna

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Guest Editor
Pediatric Neurology Unit, Fondazione Policlinico Universitario "A. Gemelli", IRCCS, Rome, Italy
Interests: neurodevelopmental disorders; autism spectrum disorders; neuromuscular disorders; paediatric neurology; neuro-immunity; neuro-genetic disorders
Special Issues, Collections and Topics in MDPI journals
Dr. Lara Cristiano

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Guest Editor
Pediatric Neurology, Catholic University, Rome, Italy
Interests: MRI in neuromuscular disorders; DMD; spinal muscular atrophy

Special Issue Information

Dear Colleagues,

Duchenne muscular dystrophy (DMD), caused by mutations in the dystrophin gene, remains a severe and complicated disorder to treat, despite the availability of current potential drugs targeting specific mutations. Nevertheless, the use of different motor outcome measures and cognitive tests associated with muscle imaging (e.g., muscle magnetic resonance (MR)) and neuro-imaging  (e.g., cerebral MR), as well as specific genetic biomarkers could led to a detailed knowledge of the natural history of this disease. This information could also explain the heterogenicity and the different profiles of motor function, behavior, and cognition that more often was found within the DMD patients carrying the same type and site of mutation (deletion, duplication, small mutation).

Therefore, a better understanding of the data, as well as further investigation of the imaging and the pathophysiological genetic mechanisms responsible for motor function and cognitive variability in DMD patients, is an important issue in order to significantly improve the natural history data collection and the response to the available therapies.

Given the current importance of DMD in medicine and research, the journal Medicina is launching this Special Issue.

We encourage you and your co-workers to submit your articles reporting on this topic. Reviews or original articles focusing on the relation of motor function test and muscle imaging, neuroimaging, and the biochemical and molecular aspects associated with DMD pathogenesis in experimental models and humans, as well as articles providing an up-to-date overview of the use of circulating/tissue biomarkers in early diagnosis and management, are particularly welcome. In addition, we warmly invite you to submit articles reporting on evidence and expectations from cerebral genotype and phenotype correlation using cerebral MR, with a special focus on genetic approaches.

Dr. Claudia Brogna
Dr. Lara Cristiano
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • DMD
  • Muscle MRI
  • Cerebral MRI
  • Motor function test
  • Genetic biomarkers

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Published Papers (2 papers)

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Research

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15 pages, 4518 KiB  
Article
Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy
by Claudia Brogna, Lara Cristiano, Tommaso Verdolotti, Giulia Norcia, Luana Ficociello, Roberta Ruiz, Giorgia Coratti, Lavinia Fanelli, Nicola Forcina, Giorgia Petracca, Fabrizia Chieppa, Tommaso Tartaglione, Cesare Colosimo, Marika Pane and Eugenio Mercuri
Medicina 2021, 57(11), 1267; https://doi.org/10.3390/medicina57111267 - 18 Nov 2021
Cited by 7 | Viewed by 2313
Abstract
Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) [...] Read more.
Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time. Full article
(This article belongs to the Special Issue Duchenne Muscular Dystrophy: MR Imaging and Genetic Findings)
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Review

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7 pages, 1808 KiB  
Review
Muscle-MRI and Functional Levels for the Evaluation of Upper Limbs in Duchenne Muscular Dystrophy: A Critical Review of the Literature
by Lara Cristiano, Claudia Brogna, Giorgio Tasca, Tommaso Verdolotti, Marika Pane and Eugenio Mercuri
Medicina 2022, 58(3), 440; https://doi.org/10.3390/medicina58030440 - 17 Mar 2022
Cited by 2 | Viewed by 2559
Abstract
Many qualitative and quantitative Magnetic Resonance Imaging (MRI) techniques have been applied to evaluate muscle fat degeneration in Duchenne muscular dystrophy (DMD) subjects, but only few studies have focused on the upper limbs. We reviewed the literature in order to evaluate the association [...] Read more.
Many qualitative and quantitative Magnetic Resonance Imaging (MRI) techniques have been applied to evaluate muscle fat degeneration in Duchenne muscular dystrophy (DMD) subjects, but only few studies have focused on the upper limbs. We reviewed the literature in order to evaluate the association between muscle MRI findings and motor function levels in the upper limbs of DMD patients. Ten studies with upper limb muscle MRI data were available. Four explored all upper limb segments, while six explored only the forearm. Functional assessments were performed in nine of the ten studies. All of the studies showed a significant correlation between muscle MRI changes and motor function levels in both ambulant and non-ambulant DMD patients. Full article
(This article belongs to the Special Issue Duchenne Muscular Dystrophy: MR Imaging and Genetic Findings)
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