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Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.
J Neurol
January 2025
Neuromuscular Diseases Unit, Neurology Department, Hospital Universitari I Politècnic La Fe, Neuromuscular Reference Centre, ERN-EURO-NMD, Avenida de Fernando Abril Martorell 106, 46026, Valencia, Spain.
Background: Distal myopathies (MPDs) are heterogeneous diseases of complex diagnosis whose prevalence and distribution in specific populations are unknown.
Methods: Demographic, clinical, genetic, neurophysiological, histopathological and muscle imaging characteristics of a MPDs cohort from a neuromuscular reference center were analyzed to study their epidemiology, features, genetic distribution and factors related to diagnosis.
Results: The series included 219 patients (61% were men, 94% Spanish and 41% sporadic cases).
[Aceneuraminic acid for distal myopathy].
Nihon Yakurigaku Zasshi
January 2025
Department of Neurology, Tohoku University School of Medicine.
Distal myopathy with rimmed vacuoles (GNE myopathy) is an incurable disease that develops after the late teens, progresses slowly, and has no effective treatment. It is inherited in an autosomal recessive manner, and the number of patients in Japan is estimated to be around 400. The causative gene was revealed to be GNE, the rate-limiting enzyme in the sialic acid biosynthesis pathway, and non-clinical studies demonstrated the effectiveness of sialic acid.
View Article and Find Full Text PDFIntroduction: GNE-myopathy is a distal myopathy with adult-onset and initial involvement of anterior leg compartment. A founder effect has been demonstrated for some patients from several large cohorts in different countries.
Methods: In this study, we investigated the allele frequency of the c.
Calcium level and autophagy defect in GNE mutants of rare neuromuscular disorder.
Cell Biol Int
December 2024
School of Biotechnology, Jawaharlal Nehru University, New Delhi, India.
Rare genetic disorders are low in prevalence and hence there is little or no attention paid to them in the mainstream medical industry. One of the ultra-rare neuromuscular disorders, GNE myopathy is caused due to biallelic mutations in the bifunctional enzyme, GNE (UDP N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase). It catalyses the rate-limiting step in sialic acid biosynthesis.
View Article and Find Full Text PDFA pilot trial for efficacy confirmation of 6'-sialyllactose supplementation in GNE myopathy: Randomized, placebo-controlled trial.
Mol Genet Metab
January 2025
Department of Neurology, Pusan National University School of Medicine, Busan, Republic of Korea; Department of Neurology and Biomedical Research institute, Pusan National University Yangsan Hospital, Gyeongsangnam-do, Republic of Korea. Electronic address:
Article Synopsis
- GNE myopathy is a rare genetic muscle disorder that leads to weakness in the ankles and muscle degeneration, caused by mutations in the GNE gene that reduce sialic acid production.
- A clinical trial tested a supplement, 6'-sialyllactose (6SL), at doses of 3g and 6g to see if it could improve muscle strength and health, revealing better outcomes in muscle strength and reduced degeneration with the higher dose.
- The latest study involved 11 participants to compare 6SL with a placebo group over 48 weeks, finding no major differences in muscle strength but a significant degeneration in muscle fat measured by MRI, indicating muscle health issues, particularly in the placebo group.
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