Publications by authors named "L Jomir"
Article Synopsis
- Congenital myasthenic syndromes (CMS) are genetic disorders that impact neuromuscular transmission, primarily identified in childhood but often diagnosed in adulthood, leading to challenges in management.
- A study of 235 adult CMS patients in France revealed diverse genetic mutations and highlighted the need for ongoing care, as the prognosis and long-term outcomes remain unclear.
- The research categorized patients based on the initial symptoms and found varied disease progression patterns, with certain genotypes showing higher rates of ICU admission and the stability of phenotypical features across a patient's life.
Article Synopsis
- Rippling muscle disease (RMD) is marked by muscle stiffness and rippling, often linked to hereditary gene variations or autoimmune conditions like myasthenia gravis and thymoma.
- A recent case study identified MURC/Cavin-4 autoantibodies in a patient with paraneoplastic iRMD who was negative for AchR antibodies and had thymoma, suggesting a specific autoimmune response.
- Tumor removal and immunotherapy significantly reduced MURC/Cavin-4 autoantibody levels, leading to the disappearance of muscle symptoms and patient remission, indicating these autoantibodies may drive the disease in thymoma cases.
Objective: To evaluate the relevance of transcranial magnetic stimulation (TMS) using triple stimulation technique (TST) to assess corticospinal function in amyotrophic lateral sclerosis (ALS) in a large-scale multicenter study.
Methods: Six ALS centers performed TST and conventional TMS in upper limbs in 98 ALS patients during their first visit to the center. Clinical evaluation of patients included the revised ALS Functional Rating Scale (ALSFRS-R) and upper motor neuron (UMN) score.
Objective: Motor unit number index (MUNIX) is proposed to monitor neuromuscular disorders. Our objective is to determine the intra-individual variability over time of the MUNIX.
Methods: In 11 different hospital centres, MUNIX was assessed twice, at least 3 months apart (range 90-360 days), in tibialis anterior (TA), abductor pollicis brevis (APB), abductor digiti minimi (ADM) and deltoid muscles in 118 healthy subjects.