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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).
A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps.
Eur J Neurol
January 2025
Genetics Department, Institut de Recerca Sant Pau (IR SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Background And Purpose: Pathogenic variants in the RYR1 gene have been associated with a variety of conditions, ranging from congenital myopathy to adult manifestations. Our aim was to characterize the p.Leu2286Val variant in 17 Basque patients, to accurately determine its correlation with clinical features and to explore the possible founder effect of the variant.
View Article and Find Full Text PDFCase report: A single novel calpain 3 gene variant associated with mild myopathy.
Front Genet
December 2024
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genova, Italy.
Recessively inherited limb-girdle muscular dystrophy type 1, caused by mutations in the calpain 3 gene, is the most common limb-girdle muscular dystrophy worldwide. Recently, cases of autosomal dominant calpainopathy have been described. A man was referred to our neurological outpatient clinic at the age of 54 for persistent hyperCKemia (>1000 U/l) associated with muscle fatigue and myalgia.
View Article and Find Full Text PDFCongenital Titinopathies Linked to Mutations in Metatranscript-Only Exons.
Int J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Article Synopsis
- Congenital titinopathies are inherited in an autosomal recessive pattern and primarily result from genetic variations in metatranscript (MTT)-only exons, leading to diverse clinical outcomes.
- The study analyzed 20 patients with these variants, revealing severe congenital myopathy at birth along with a wide range of associated issues like muscular weakness and respiratory problems.
- Findings underscore the importance of genotype-phenotype correlations, enhancing understanding of the genetic basis and molecular mechanisms behind these conditions.
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity.
Brain
November 2024
Department of Neurosciences, Neuromuscular Center, University of Padova, 35128 Padova, Italy.
Article Synopsis
- Becker muscular dystrophy (BMD) is an X-linked neuromuscular disorder caused by mutations in the DMD gene, impacting dystrophin production in muscle tissues, which is important for patient care and treatment development.
- A study of 943 BMD patients revealed the median age at diagnosis was 7.5 years, with significant findings including that about 13.5% lost mobility by an estimated age of 69, while 30% experienced cardiac issues.
- Different types of DMD mutations correlated with variations in disease progression, particularly affecting loss of ambulation and heart functionality, highlighting the importance of precise genetic characterization for managing BMD.
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