Clinical Advances in Neuromuscular Diseases: Neurometabolic Disorders

Editors


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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

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

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Keywords

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

Published Papers (3 papers)

2024

Jump to: 2023

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 746
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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Figure 1

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 - 08 Nov 2023
Cited by 2 | Viewed by 1149
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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Figure 1

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 756
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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