Sep 2026· International Innovations Journal of Applied Science· Vol 3· 0 citations
TL;DR
Libya has taken steps to establish a national framework for managing NMDS, however, long -term sustainability and availability of genetic therapies remain challenges.
Abstract
Genetic neuromuscular diseases (NMD) are rare , disabling disorders increasingly recognized worldwide with advances in molecular diagnostics and gene-targeted therapies . In libya ,however, their recognition remains limited due to restricted access to specialized services , the aim of this study to description of libya's efforts to implement national diagnostic and management programs for neruomuscular diseases . methods of this study by review of patients screened, genetic testing results , treatments provided ( SMA, DMD), and international collaborations. , the results : over 2000 patients evaluated : SMA prevalence 3,02/100.000, DMD prevalence 7,06/100.000 males. more than 100 patients treated with Risdiplam locally ; 18 childeren received zolgensma abroad ; 36 patients start exon-skipping therapies. libya has taken steps to establish a national framework for managing NMDS, however , long -term sustainability and availability of genetic therapies remain challenges .
An overview of the history of SMA is provided, highlighting its evolving classification and the genetic basis underlying its clinical variability, and the development and clinical trial data of the three Food and Drug Administration- and European Medicines Agency-approved therapies: nusinersen, onasemnogene abeparvovec...
Olcay Ünver, J. Wilmshurst, Haluk A. Topaloglu· Journal of International Chi...· 0 citations
Advances in research enable precision medicine for rare metabolic diseases. The approval of therapies as melanocortin-4 receptor (MC4R) agonists for the treatment of hyperphagia and obesity in monogenic disorders (POMC, PCSK1, and LEPR deficiencies) and Bardet-Biedl syndrome (BBS), affecting fewer than 1 in 20,000 (BBS...
Karine Clément, I. Farooqi, Peter Kühnen et al.· Journal of Clinical Endocrin...· 0 citations
Background Duchenne muscular dystrophy (DMD) progression has been evaluated in clinical trials; however, some ethnic populations—including Kazakhstan, a country with a genetically unique population—are still underrepresented. While the prevalence of DMD in Kazakhstan has yet to be reported, Kazakhstan is one of the onl...
Altynshash Jaxybayeva, B. Myrzaliyeva, M. Lepessova et al.· Journal of Neuromuscular Dis...· 0 citations
BACKGROUND
5q spinal muscular atrophy (5q SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the survival motor neuron 1 gene (SMN1), leading to deficiency of SMN protein and a variable clinical spectrum influenced by survival motor neuron 2 gene (SMN2) copy number. The advent of disease-modif...
Andrés Nascimento-Osorio, Graciela Barros Acevedo, M. de los Ángeles Beytía et al.· Revista de neurología (Ed. i...· 0 citations
Background and Objectives: Duchenne muscular dystrophy (DMD) is a rare and progressive genetic disease with limited treatment options. Clinical trials remain essential for the development of new therapies and may provide patients with access to new potential treatments. This study aims to describe the clinical trial la...
Petar Telbiyski, R. Staynova· Medicina· 0 citations
A substantial subset of chronic kidney disease has an underlying monogenic cause, both in children and adults. Modern sequencing technologies provide the means for broad genetic testing. Approaches to therapy and patient care become increasingly aetiology-based. Thus, unravelling the genetic cause is getting clinical...
