Publications by authors named "M C Arne-Bes"
Background: Neuromuscular disease and peripheral neuropathy may cause drop foot with or without evertor weakness. We developed a helical-shaped, non-articulated ankle-foot orthosis (AFO) to provide medial-lateral stability while allowing mobility, to improve gait capacity. Our aim was to evaluate the effect of the helical AFO (hAFO) on functional gait capacity (6-min walk test) in people with peripheral neuropathy or neuromuscular disease (NMD) causing unilateral drop foot and compare with a posterior leaf spring AFO (plsAFO).
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- Titin protein, encoded by the TTN gene with 364 exons, is key for muscle elasticity and has various isoforms due to extensive alternative splicing in skeletal and cardiac muscles.
- Variants in the TTN gene can cause myopathies with diverse symptoms and can be transmitted in dominant or recessive patterns.
- The implementation of long-reads sequencing technology helps accurately identify and locate variants in complex repeated regions of the TTN gene, enhancing diagnosis and screening for TTN-related myopathies in patients and their relatives.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Genes (Basel)
July 2021
Article Synopsis
- The diagnosis of myopathies is complicated due to diverse genetic causes and overlapping symptoms, making it a challenge for clinicians.
- A comprehensive study utilized Next-Generation Sequencing to analyze 156 patients, successfully identifying genetic causes in 74, which shows a diagnostic success rate similar to earlier studies.
- It emphasized the importance of understanding variability in symptoms among patients, suggesting that milder forms may result from less harmful genetic variants, which is crucial for personalized medicine and better patient outcomes.
We describe the clinical, electrodiagnostic, and genetic findings of three homozygous FIG4-c.122T>C patients suffering from Charcot-Marie-Tooth disease type 4J (AR-CMT-FIG4). This syndrome usually involves compound heterozygosity associating FIG4-c.
View Article and Find Full Text PDFBackground: The most common inherited peripheral neuropathy is Charcot-Marie-Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.
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