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Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
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Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders

A topical collection in Muscles (ISSN 2813-0413).

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Editors

Prof. Dr. Corrado Angelini

E-Mail Website
Collection Editor
Department of Neurosciences, University of Padova, 35128 Padova, Italy
Interests: metabolic myopathies; muscular dystrophy; neutral lipid storage disorders; spinal muscular atrophy; McArdle disease
Special Issues, Collections and Topics in MDPI journals
Prof. Dr. Daniela Tavian

E-Mail Website
Collection Editor
Department of Psychology, Catholic University, 20123 Milan, Italy
Interests: NLSD-M; NLSD-I
Special Issues, Collections and Topics in MDPI journals

Topical Collection Information

Dear Colleagues,

Metabolic disorders are characterized by the deficiency or dysfunction of essential metabolites and most commonly manifest with neurological symptoms due to impaired brain development or functioning. Due to their low incidence and high mortality, metabolic disorders are traditionally the preserve of pediatric neurologists; however, some can present in adulthood and increasing numbers of patients transition into adult services. Therefore, the neurometabolic disorders of inborn error of metabolism with CNS involvement apply to both children and adult neurologists.

Recent advances have been reported in mitochondrial encephalomyopathies and neutral lipid storage disorders. The covered topics of interest in this Topical Collection include, but are not limited to, the following:

  1. Glycogen storage disorders;
  2. Pompe, McArdle diseases and Danon disease;
  3. Lipid metabolic disorders, i.e., carnitine deficiency, organic aciduria, RR-MADD, NLSD-M and NLSD-I;
  4. Mitochondrial encefalomyopaties;
  5. Muscular dystrophies mimicking metabolic disorders with cramps or myoglobinuria, such as Becker muscular dystrophy, calpainopathy, dysferlinopathy, etc.

Prof. Dr. Corrado Angelini
Prof. Dr. Daniela Tavian
Collection 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 collection 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. Muscles is an international peer-reviewed open access quarterly 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 1000 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

  • glycogen
  • lipid disorders
  • Pompe
  • NLSD-M
  • NLSD-I
  • mitochondria
  • McArdle disease

Published Papers (5 papers)

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2024

Jump to: 2023

11 pages, 1004 KiB  
Article
Noninvasive Assessments of Mitochondrial Capacity in People with Mitochondrial Myopathies
by Kevin K. McCully, Hannah M. Bossie and Fran D. Kendall
Muscles 2024, 3(4), 393-403; https://doi.org/10.3390/muscles3040033 - 26 Nov 2024
Viewed by 408
Abstract
People affected by mitochondrial myopathies (MITOs) are thought to have impaired skeletal muscle oxygenation. The aims of this study were to measure skeletal muscle mitochondrial capacity in MITO participants and able-bodied (AB) participants and evaluate the influence of muscle-specific endurance training in one [...] Read more.
People affected by mitochondrial myopathies (MITOs) are thought to have impaired skeletal muscle oxygenation. The aims of this study were to measure skeletal muscle mitochondrial capacity in MITO participants and able-bodied (AB) participants and evaluate the influence of muscle-specific endurance training in one MITO participant. Participants (n = 7) with mitochondrial disease and controls (n = 9) were tested (ages 18–54 years). Mitochondrial capacity (mVO2max) was measured using the rate constant of recovery of oxygen consumption (mVO2) after exercise in the forearm flexor muscles with near-infrared spectroscopy (NIRS). One MITO participant was tested before and after performing 18 forearm exercise sessions in 30 days. There were no differences between MITO and AB participants in mVO2max (MITO: 1.4 ± 0.1 min−1; AB: 1.5 ± 0.3 min−1; p = 0.29), resting mVO2 (MITO: −0.4 ± 0.2%/min; AB: −0.3 ± 0.1%/min; p = 0.23), or initial post exercise oxygen consumption rates (MITO: 4.3 ± 1.2%/min; AB: 4.4 ± 1.4%/min; p = 0.9). Exercise oxygen desaturation was greater in MITO (39.8 ± 9.7% range) than in AB (28 ± 8.8% range) participants, p = 0.02. The MITO participant who trained increased her mitochondrial capacity (58%) and muscle-specific endurance (24%) and had reduced symptoms of muscle fatigue. We found no evidence supporting in vivo impairment of forearm muscle mVO2max in genetically confirmed MITO participants. This is consistent with studies that report increased mitochondrial content, which offsets the decrease in mitochondrial function. Positive muscle adaptations to endurance training appear to be possible in people with MITOs. Characterization of study populations will be important when interpreting the relationship between in vivo mitochondrial capacity and mitochondrial disease. Full article
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11 pages, 899 KiB  
Article
Alternative Treatments to Exercise for the Attenuation of Disuse-Induced Skeletal Muscle Atrophy in Rats
by Jinho Park, T. Brock Symons, Eun Hye Kwon, Eunhee Chung and Sukho Lee
Muscles 2024, 3(3), 224-234; https://doi.org/10.3390/muscles3030020 - 22 Jul 2024
Viewed by 997
Abstract
The prevalence of skeletal muscle atrophy, caused by disease and aging, is rising as life expectancy increases. Exercise is the most effective treatment option; however, it is often impractical for individuals suffering from disease or bedridden. The formulation of non-exercise-based interventions is necessary. [...] Read more.
The prevalence of skeletal muscle atrophy, caused by disease and aging, is rising as life expectancy increases. Exercise is the most effective treatment option; however, it is often impractical for individuals suffering from disease or bedridden. The formulation of non-exercise-based interventions is necessary. This study assessed the impact of acupuncture (AC), electro-acupuncture (EA), and electrical stimulation (ES) on muscle mass and contractile properties in a model of casting-induced muscle atrophy. Sprague-Dawley rats (n = 40) were assigned to five groups: control (CON), cast (CT), cast receiving AC (CT-AC), cast receiving EA (CT-EA), and cast receiving ES (CT-ES) (n = 8 each). Treatments were 15 min and three times/week for 14 days. Contractile properties and protein markers of atrophy and inflammation were measured. Casting decreased muscle mass and fiber cross-sectional area, but AC, EA, and ES attenuated cast-induced muscle atrophy. All treatments increased peak twitch tension compared to CT. CT increased the protein levels of MAFbx and MuRF1, while AC, EA, and ES mitigated the elevation of these proteins. Our results indicate that acupuncture, electro-acupuncture, and electrical stimulation show promise as therapeutic strategies to counteract skeletal muscle loss and dysfunction resulting from disuse atrophy caused by injury, disease, and aging. Full article
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12 pages, 3031 KiB  
Case Report
PNPT1 Spectrum Disorders: An Underrecognized and Complex Group of Neurometabolic Disorders
by Paulo Sgobbi, Igor Braga Farias, Paulo de Lima Serrano, Bruno de Mattos Lombardi Badia, Hélvia Bertoldo de Oliveira, Alana Strucker Barbosa, Camila Alves Pereira, Vanessa de Freitas Moreira, Marco Antônio Troccoli Chieia, Adriel Rêgo Barbosa, Pedro Henrique Almeida Fraiman, Vinícius Lopes Braga, Roberta Ismael Lacerda Machado, Sophia Luiz Calegaretti, Isabela Danziato Fernandes, Roberta Correa Ribeiro, Marco Antonio Orsini Neves, Wladimir Bocca Vieira de Rezende Pinto and Acary Souza Bulle Oliveira
Muscles 2024, 3(1), 4-15; https://doi.org/10.3390/muscles3010002 - 19 Jan 2024
Viewed by 1675
Abstract
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left eye divergent [...] Read more.
An 18-year-old man presented with slowly progressive infancy-onset spasticity of the lower limbs and cerebellar ataxia, associated with painless strabismus, intellectual disability, urinary incontinence, bilateral progressive visual loss, and cognitive decline since early adolescence. A neurological examination disclosed spastic dysarthria, left eye divergent strabismus, bilateral ophthalmoparesis, impaired smooth pursuit, severe spastic paraparesis of the lower limbs with global brisk tendon reflexes, bilateral extensor plantar responses, and bilateral ankle clonus reflex. Bilateral dysdiadochokinesia of the upper limbs, Stewart-Holmes rebound phenomenon, bilateral dysmetria, and a bilateral abnormal finger-to-nose test were observed. Markedly reduced bilateral visual acuity (right side 20/150, left side 20/400) and moderate to severe optic atrophy were detected. Neuroimaging studies showed cerebellar atrophy and bilateral optic nerves and optic tract atrophy as the main findings. As a complicated Hereditary Spastic Paraplegia, autosomal dominant Spinocerebellar Ataxia, or inherited neurometabolic disorders were suspected, a large next-generation sequencing-based gene panel testing disclosed the heterozygous pathogenic variant c.162-1G>A in intron 1 of the PNPT1 gene. A diagnosis of PNPT1-related spastic ataxia was established. Clinicians must be aware of the possibility of PNPT1 pathogenic variants in cases of spastic ataxia and spastic paraplegias that are associated with optic atrophy and marked cognitive decline, regardless of the established family history of neurological compromise. Full article
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2023

Jump to: 2024

15 pages, 2568 KiB  
Systematic Review
A Straightforward Approach to Analyze Skeletal Muscle MRI in Limb-Girdle Muscular Dystrophy for Differential Diagnosis: A Systematic Review
by Ryo Morishima and Benedikt Schoser
Muscles 2023, 2(4), 374-388; https://doi.org/10.3390/muscles2040029 - 8 Nov 2023
Cited by 4 | Viewed by 1959
Abstract
Skeletal muscle MRI studies in limb-girdle muscular dystrophy (LGMD) have increased over the past decades, improving the utility of MRI as a differential diagnostic tool. Nevertheless, the relative rarity of individual genotypes limits the scope of what each study can address, making it [...] Read more.
Skeletal muscle MRI studies in limb-girdle muscular dystrophy (LGMD) have increased over the past decades, improving the utility of MRI as a differential diagnostic tool. Nevertheless, the relative rarity of individual genotypes limits the scope of what each study can address, making it challenging to obtain a comprehensive overview of the MRI image of this splintered group. Furthermore, MRI studies have varied in their methods for assessing fat infiltration, which is essential in skeletal muscle MRI evaluation. It stayed problematic and impeded attempts to integrate multiple studies to cover the core MRI features of a distinct LGMD. In this study, we conducted a systematic review of LGMD in adults published until April 2023; 935 references were screened in PubMed and EMBASE, searches of the gray literature, and additional records were added during the screening process. Finally, 39 studies were included in our final analysis. We attempted to quantitatively synthesize the MRI data sets from the 39 individual studies. Finally, we illustrated ideal and simple MRI muscle involvement patterns of six representative LGMD genotypes. Our summary synthesis reveals a distinct distribution pattern of affected muscles by LGMD genotypes, which may be helpful for a quick first-tier differential diagnosis guiding genetic diagnostics. Full article
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3 pages, 171 KiB  
Editorial
Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders
by Corrado Angelini and Daniela Tavian
Muscles 2023, 2(3), 271-273; https://doi.org/10.3390/muscles2030020 - 17 Jul 2023
Viewed by 1223
Abstract
Metabolic myopathies are characterized by the dysfunction of several metabolic pathways that results in a deficiency of fuels required to generate energy for muscle contractions [...] Full article
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