Advances in research

Congenital 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 skills) which generally manifests at birth or during the first few months of life (“congenital”). This document, presents research news … [Read more]

Facioscapulohumeral 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 asymmetric and varies greatly from person to person. It is a slowly progressive disease in most cases … [Read more]

Duchenne 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 muscle weakness which begins during childhood, while BMD manifests as less severe muscle weakness which appears during childhood or adolescence, or … [Read more]

Myasthenia 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 hyperplasia and occasionally thymoma. This document, published to coincide with the AFM- Téléthon General Meeting 2023, presents myasthenia … [Read more]

Charcot-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 disorders (and at times, pain) and balance disorders. Most of the time, the condition begins in childhood or young adulthood, … [Read more]

Limb-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 manifestations vary significantly, from simple muscle fatigue to forms that can result in an inability to walk, with or without … [Read more]

SMN1-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 peripheral motor neurons. A decrease in the number of muscle fibres, which cannot survive without innervation, causes a … [Read more]

Inflammatory 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 often by muscle pain. Certain forms of myositis are accompanied by joint pain or skin manifestations, or even cardiac and/or pulmonary involvement, making these … [Read more]

Steinert disease or myotonic dystrophy type 1 is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It also affects other organs (heart and respiratory systems, digestive system, hormone secretions and nervous system): it is a so-called multi- system disease. This document presents news … [Read more]

Myotonic dystrophy type 2 or PROMM (Proximal Myotonic Myopathy) is a rare disease of genetic origin. It affects the muscles, which become weak (dystrophy) and difficult to relax after contraction (myotonia). It can also affect other organs (heart, eyes, etc.). It manifests in adulthood and progresses slowly. This disease has many similarities with another, much … [Read more]