Advances in research

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]