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Diagnostics
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Diagnostics in Neuromuscular Disorders
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Diagnostics in Neuromuscular Disorders

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 May 2022) | Viewed by 7596

Special Issue Editor

Dr. Jee Young Kim

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Guest Editor
Department of Neurology, Cheongna Best Rehabilitation Hospital, 110, Bongojae 3-ro, Seo-gu, Incheon 22883, Korea
Interests: electrodiagnostic testing; neuromuscular junction disorders; peripheral neuropathy; myopathy; pain; autonomic nervous disorder; sports neurology

Special Issue Information

Dear Colleagues,

Thanks to the rapid evolution and development of genetic knowledge and techniques, various disease entities and genes responsible for numerous neuromuscular disorders (NMDs) have been identified. In addition, the clinical application of muscle imaging has facilitated the assessment of disease progression and severity. Despite the advances in diagnostic methods, a large number of patients in clinical practice remain undiagnosed. The discovery of potential biomarkers in this field is very difficult because many NMDs are rare diseases and have heterogeneous etiologies and variable phenotypes. Therefore, steady and collaborative efforts are required.

The aim of this Special Issue is to highlight new potential biomarkers that might play a future role in more precise diagnosis, and in more accurate prediction of prognosis and treatment response for neuromuscular disorders. Original research articles, reviews, or commentaries/perspectives covering new diagnostic or prognostic markers will be welcome.

Dr. Jee Young Kim
Guest Editor

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. Diagnostics is an international peer-reviewed open access semimonthly 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 2600 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

  • neuromuscular junction disorders
  • myopathy
  • peripheral neuropathy
  • autonomic neuropathy
  • pain
  • biomarkers

Published Papers (3 papers)

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Review

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12 pages, 418 KiB  
Review
Digital Biomarkers for Neuromuscular Disorders: A Systematic Scoping Review
by Bo-Young Youn, Youme Ko, Seunghwan Moon, Jinhee Lee, Seung-Gyu Ko and Jee-Young Kim
Diagnostics 2021, 11(7), 1275; https://doi.org/10.3390/diagnostics11071275 - 15 Jul 2021
Cited by 19 | Viewed by 3858
Abstract
Biomarkers play a vital role in clinical care. They enable early diagnosis and treatment by identifying a patient’s condition and disease course and act as an outcome measure that accurately evaluates the efficacy of a new treatment or drug. Due to the rapid [...] Read more.
Biomarkers play a vital role in clinical care. They enable early diagnosis and treatment by identifying a patient’s condition and disease course and act as an outcome measure that accurately evaluates the efficacy of a new treatment or drug. Due to the rapid development of digital technologies, digital biomarkers are expected to grow tremendously. In the era of change, this scoping review was conducted to see which digital biomarkers are progressing in neuromuscular disorders, a diverse and broad-range disease group among the neurological diseases, to discover available evidence for their feasibility and reliability. Thus, a total of 10 studies were examined: 9 observational studies and 1 animal study. Of the observational studies, studies were conducted with amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), and spinal muscular atrophy (SMA) patients. Non-peer reviewed poster presentations were not considered, as the articles may lead to erroneous results. The only animal study included in the present review investigated the mice model of ALS for detecting rest disturbances using a non-invasive digital biomarker. Full article
(This article belongs to the Special Issue Diagnostics in Neuromuscular Disorders)
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3 pages, 943 KiB  
Interesting Images
Reflex of the Gracilis in Brain Death
by Han Uk Ryu, Sang Yeon Kim and Hyun Goo Kang
Diagnostics 2022, 12(10), 2422; https://doi.org/10.3390/diagnostics12102422 - 7 Oct 2022
Viewed by 1295
Abstract
In patients with brain death, reflex movements originating from spinal reflexes are observed intermittently. Generally, they can occur under hypoxic stimuli such as when the ventilator is removed, under physical stimuli such as bending the neck, or under hypotension. Finger- and toe-jerk responses [...] Read more.
In patients with brain death, reflex movements originating from spinal reflexes are observed intermittently. Generally, they can occur under hypoxic stimuli such as when the ventilator is removed, under physical stimuli such as bending the neck, or under hypotension. Finger- and toe-jerk responses are commonly observed reflex movements that can occur in patients with brain death. In addition, the Lazarus sign, known as the most dramatic reflex movement, appears mainly in the upper extremities (e.g., the hands and arms) and in the distal lower extremities (e.g., the soles and toes). This case showed a reflex movement that was triggered by the contraction of the gracilis, a proximal muscle in the lower extremities, with only a gentle stimulus on the sole. Full article
(This article belongs to the Special Issue Diagnostics in Neuromuscular Disorders)
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5 pages, 1364 KiB  
Case Report
Prominent Asymmetric Muscle Weakness and Atrophy in Seronegative Immune-Mediated Necrotizing Myopathy
by Sunha Park, Dae-Hyun Jang, Jae-Min Kim and Nara Yoon
Diagnostics 2021, 11(11), 2064; https://doi.org/10.3390/diagnostics11112064 - 8 Nov 2021
Viewed by 1671
Abstract
Immune-mediated necrotizing myopathy, a new subgroup of inflammatory myopathies, usually begins with subacute onset of symmetrical proximal muscle weakness. A 35-year-old male presented with severe asymmetric iliopsoas atrophy and low back pain with a previous history of left lower extremity weakness. Although his [...] Read more.
Immune-mediated necrotizing myopathy, a new subgroup of inflammatory myopathies, usually begins with subacute onset of symmetrical proximal muscle weakness. A 35-year-old male presented with severe asymmetric iliopsoas atrophy and low back pain with a previous history of left lower extremity weakness. Although his first left lower extremity weakness occurred 12 years ago, he did not receive a clear diagnosis. Magnetic resonance imaging of both thigh muscles showed muscle edema and contrast enhancement in patch patterns, and the left buttock and thigh muscles were more atrophied compared to the right side. Serum creatine kinase levels were elevated, and serologic testings were all negative. Genetic testing using a targeted gene-sequencing panel for neuromuscular disease including myopathy identified no pathogenic variants. Muscle biopsy on the right vastus lateralis showed scattered myofiber necrosis with phagocytosis and an absence of prominent inflammatory cells, consistent with seronegative necrotizing myopathy. Thus, unusual asymmetric muscle weakness and atrophy can be a manifestation of inflammatory myopathy. Full article
(This article belongs to the Special Issue Diagnostics in Neuromuscular Disorders)
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