Publications by authors named "G Acsadi"
Article Synopsis
- - Charcot-Marie-Tooth disease (CMTX1) is an X-linked genetic disorder affecting nerve function, primarily impacting males more severely, and is often caused by variants in the GJB1 gene, with many of these variants being classified as variants of uncertain significance (VUS).
- - A large study involving 387 patients across 295 families assessed the pathogenicity of GJB1 variants, finding that 82.4% had pathogenic or likely pathogenic (P/LP) variants, and noted no significant baseline differences in symptoms between patients with P/LP variants and VUS.
- - The research tracked disease progression over 8 years using the CMT Examination Score (CMTES) and identified that specific variants
Article Synopsis
- Charcot-Marie-Tooth disease (CMT) leads to muscle weakness and gait issues, making it crucial to comprehend how ankle strength loss impacts walking for treatment evaluation.
- The study investigates how ankle movement and strength differ by age, CMT type, and disease severity in young individuals with CMT types 1 and 2.
- Results show that CMT2 patients exhibit lower strength and power in ankle movements compared to CMT1, with age affecting peak ankle positions differently between the two types.
Background: Charcot-Marie-Tooth disease (CMT) results in muscle weakness and contracture leading to a wide variety of gait issues including atypical ankle kinematics in both stance and swing. Knowledge of the stance and swing phase kinematic patterns for CMT type 1 (CMT1), the most common CMT type, will improve our understanding of expected gait outcomes and treatment needs to improve gait function.
Research Question: What are the stance/swing phase ankle phenotypes in CMT1?
Methods: A prospective convenience sample of 25 participants with CMT1, ages 7-19 years, underwent comprehensive gait analysis following standard procedures.
Background: Charcot-Marie-Tooth disease (CMT) results in distal muscle weakness that leads to gait difficulties in both the stance and swing phases, thus limiting function in the community. A primary purpose of ankle foot orthoses (AFOs) is to improve gait function; however, little is known about what AFOs are prescribed and how they benefit children with CMT.
Research Question: To determine the impact of previously prescribed AFOs on gait in children with CMT using comprehensive gait analysis techniques.