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Documents disponibles écrits par cet auteur (10)
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Publication AFM
Bichat M, Auteur ; Attarian S, Validateur ; Hoyau A, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2024This document, published to coincide with the AFM-Téléthon General Meeting 2024, presents Charcot-Marie-Tooth disease research news from the past year (international conferences, ongoing studies and clinical trials, scientific and medical public[...]
Publication AFM
Myoinfo, Auteur ; Malfatti E, Validateur ; Marty I, Validateur ; Nicot AS, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2023Congenital myopathies are a heterogenous group of rare diseases characterised by structural abnormalities in muscle fibres which are most often detected at a young age. These abnormalities lead to muscle weakness (hypotonia and impaired motor sk[...]
Publication AFM
Myoinfo, Auteur ; Dumonceaux J, Validateur ; Genet S, Validateur ; Gilby E, Auteur | AFM-TELETHON | Savoir & Comprendre | 06/2023Facioscapulohumeral muscular dystrophy (FSHD or FSH) is a rare genetic disease. The first symptoms (wasting and weakness of muscles in the face and upper limbs) usually appear in adolescence or adulthood. The muscle involvement in FSHD is often [...]
Publication AFM
Myoinfo, Auteur ; Le Panse R, Validateur ; André C, Validateur ; Archer A, Validateur ; Gilby E, Auteur | AFM-TELETHON | Savoir & Comprendre | 06/2023Myasthenia gravis is a rare disease that manifests as fluctuating muscle weakness and fatigue of varying intensity and duration which can affect any of the voluntary muscles. It is often accompanied by thymus gland irregularities such as hyperpl[...]
Publication AFM
Myoinfo, Auteur ; Lorain S, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2023Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are rare genetic diseases which affect skeletal and cardiac muscle. They primarily occur in males but can also occasionally affect females. DMD manifests as progressive muscl[...]
Publication AFM
Brignol TN ; Urtizberea JA ; Rivière H ; Gilby E | AFM-TELETHON | Fiche Technique Médico-Scientifique Savoir & Comprendre | 03/2023After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and trea[...]
Publication AFM
Masingue M, Auteur ; Myoinfo, Auteur ; Lefebvre S, Validateur ; André C, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2022SMN1-related proximal spinal muscular atrophy is a type of proximal spinal muscular atrophy, a rare group of genetic diseases causing degeneration of the nerve cells conveying, from the spinal cord to the muscles, messages ordering movement: the[...]
Publication AFM
Myoinfo, Auteur ; Benveniste O, Validateur ; Lorain S, Validateur ; Launay AE, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2022Inflammatory myopathies (or myositis) are diseases that involve muscle inflammation. These so-called "autoimmune" diseases are not hereditary. They are characterised by muscle weakness (ranging from simple discomfort to complete paralysis), and [...]
Publication AFM
Myoinfo, Auteur ; Attarian S, Validateur ; Vallat JM, Validateur ; Gilby E, Auteur | AFM-TELETHON | Savoir & Comprendre | 06/2022Charcot-Marie-Tooth (CMT) disease is a group of clinically and genetically heterogeneous diseases, characterised by damage to the peripheral nerves of the upper and lower limbs. This damage mainly causes muscle weakness, hand and foot sensory d[...]
Publication AFM
Myoinfo, Auteur ; Urtizberea JA, Validateur ; Lorain S, Validateur ; Bordes M, Validateur ; Gilby E, Traducteur | AFM-TELETHON | Savoir & Comprendre | 06/2022Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of rare genetic muscle diseases. These diseases manifest as a deficit and atrophy of the pelvis muscles (pelvic girdle) and the shoulder muscles (pectoral girdle). The disease manife[...]
