Blog Archives
DMD and corticosteroids: a contribution from the UK confirms their benefit for respiratory and cardiac function
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease, beginning in childhood. It gives rise to progressive muscle degeneration leading to loss of walking ability at an average age of between 10 and 12 years and is accompanied by serious cardiorespiratory complications from adolescence onwards. Current treatment guidelines include long-term corticosteroid therapy initiated from … [Read more]
Zolgensma® has obtained conditional marketing authorisation in Europe and cohort ATU in France
The gene therapy product, Zolgensma® (onasemnogene abeparvovec), administered intravenously with a single injection, has just obtained conditional marketing authorisation from the European Commission for SMN1-related proximal spinal muscular atrophy (SMA). This conditional marketing authorisation relates to babies and young children weighing less than 21 kg presenting: a biallelic mutation on the SMN1 gene and a … [Read more]
A meta-analysis estimates prevalence of DMD worldwide
A review of the medical-scientific literature published until October 1, 2019 on the epidemiology of Duchenne muscular dystrophy (DMD) was carried out by an Italian team. Based on around 40 studies, it has not only made it possible to estimate the prevalence of the disease for the first time worldwide, but also to assess the … [Read more]
87 026 262 euros were raised for the 2019 Telethon!
Last December 6th and 7th, people all across France rallied in favour of the 2019 Telethon, with donations totalling 74.5 million euros by the end of the television broadcast. Today, a few months later, we are very proud to announce the final result of our 2019 fundraising campaign: 87 026 262 euros. Thank you from … [Read more]
Ganglionopathies associated with MERRF syndrome
MERRF syndrome, which combines myoclonic epilepsy and myopathy with red and shredded muscle fibers, is part of the wide spectrum of mitochondrial diseases. In this syndrome, neuropathies are common but no ganglionopathy has ever been reported. In an article published in June 2020, a French team including clinicians from the Institute of Myology retrospectively identified … [Read more]
A program to promote clinical trials in SMA in the United States
SMA can start at all ages. It is clinically manifested by paralysis of varying age and severity, causing respiratory and orthopedic complications. Depending on the age of onset and the motor levels acquired, there are 4 types (from I to IV). Motor neuron degeneration is linked to a recessive mutation in the SMN1 gene, the … [Read more]
New study argues for a 4-time higher dose of enzyme in infantile-onset Pompe disease
Pompe disease is a rare metabolic disease caused by abnormalities in the GAA gene, which codes for acid alpha-glucosidase, also called acid maltase. The infantile-onset of the disease causes early death in the absence of enzyme replacement therapy with alglucosidase alfa (Myozyme®), administered intravenously at the usual dose of 20 mg / kg / 14 … [Read more]
The first lessons from the neonatal screening program for SMA in New York State
SMA is the second most common neuromuscular disorder in children. There are 4 types (from I to IV) depending on the age of onset of symptoms and the maximum functional abilities reached. SMA is the cause of paralysis, often progressing to respiratory failure and severe orthopedic deformities. The recent arrival of two innovative treatments based on … [Read more]
Myotubular myopathy and peliosis hepatitis: a non incidental association
X-linked myotubular myopathy (MTM) is an extremely rare neuromuscular disease belonging to the very heterogeneous group of congenital myopathies. Revealed at birth, even in utero, it is extremely severe with premature mortality. It results in a major hypotonia with respiratory attack, the whole quickly putting into play the vital prognosis. The causal gene MTM1 codes … [Read more]
Single-breath count test by phone helps to identify myasthenic crises
Myasthenia gravis, a disease of the neuromuscular junction, can be accompanied by respiratory difficulties (dyspnoea, congestion, ineffective cough …) whose occurrence over a few days, associated with a rapid motor deterioration, leads to the diagnosis myasthenic crisis. This exacerbation of the disease constitutes a vital emergency, which requires hospitalization in intensive care. An easy and … [Read more]
