Advances in research
RSS feedAdvances 2024 in limb-girdle muscular dystrophies
This document presents limb-girdle muscular dystrophy research news from the past year (ongoing observational studies and clinical trials, scientific and medical publications, etc.). As the name suggests, limb girdle muscular dystrophies (LGMD) affect the âlimb girdleâ muscles. Symptoms generally appear before the age of 30, with slow progression and no facial muscle involvement. Common symptoms … [Read more]
Advances in congenital muscular dystrophies – June 2024
Apparent at birth or in the first few months of life, congenital muscular dystrophies (CMD) are a group of very diverse, rare diseases characterised by progressive muscle weakness in the trunk and limbs. They may also affect other organs such as the heart, brain and eyes. Common symptoms are muscle weakness with hypotonia causing impaired … [Read more]
Advances in myotonic dystrophy type 1 – June 2024
This disease, which is also known as Steinert disease, mainly affects the muscles but can also impact other organs to a greater or lesser extent. DM1 is a âmultisystemâ disorder, meaning it affects several different organs (muscles, the heart, the respiratory system, the digestive system, the endocrine system and the nervous system). Muscles decrease in … [Read more]
Advances in myotonic dystrophy type 2Â – June 2024
DM2 mainly affects the muscles but can also impact other organs to a greater or lesser extent. It is very similar to another more common neuromuscular disease called myotonic dystrophy type 1 (DM1). Muscles decrease in volume, become weak (dystrophy) and have difficulty relaxing after they contract (myotonia). DM2 is a âmultisystemâ disorder, meaning it … [Read more]
Advances in Charcot-Marie-Tooth disease – June 2024
Charcot-Marie-Tooth disease is a group of genetic diseases that cause damage to the peripheral nerves (nerves that connect the spinal cord to muscles and sensory organs) of the arms and legs (neuropathy). It is also known as hereditary motor and sensory neuropathy (HMSN). Common symptoms are muscle weakness and wasting in the legs (feet and … [Read more]
Advances in congenital myopathies
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 (âcongenitalâ). This document, presents research news … [Read more]
Advances in facioscapulohumeral muscular dystrophy – June 2023
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]
Advances in Duchenne muscular dystrophy and Becker muscular dystrophy – June 2023
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]
Advances in myasthenia gravis
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- TĂ©lĂ©thon General Meeting 2023, presents myasthenia … [Read more]
Advances in Charcot-Marie-Tooth disease
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]
