Blog Archives
Institute researchers at the Ottawa NMD 2023 conference
Three researchers from the institute presented their findings at the Ottawa NMD 2023 Conference, held from 7 to 9 September in Ottawa, Canada. Communications : Friday 8 September Session 2A Clinical: Motor Neuron Disease Pathogenesis and Treatment Giorgia Querin, MD/PhD – Innovative treatments in NMD: the beginning of a new era? Saturday 9 September Session … [Read more]
The French Pompe disease registry turns 18
Created in 2004, the French registry for Pompe disease collects prospective clinical and biological data on people with this disease. In 2022, thanks to the collaboration of the 31 reference centres for rare neuromuscular and metabolic diseases, the register includes 210 patients with the adult form of the disease. One hundred and seventy-seven received enzyme … [Read more]
7 September is International Duchenne Muscular Dystrophy Awareness Day
The 10th World Duchenne Muscular Dystrophy Day, on 7 September, is a call to action to break down the physical, social and healthcare barriers faced by the 250,000 people worldwide affected by this disease. With the theme “Duchenne: breaking down the barriers”, the day dedicated to raising awareness of Duchenne muscular dystrophy aims to encourage … [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]
ERN EURO-NMD webinar, 14th Sept. – Prof. Dr. Anders Oldfors (Sweden)
Mitochondrial Myopathies 14th September 2023 – 4pm Paris time Prof. Dr. Anders Oldfors (University of Gothenburg and Sahlgrenska University Hospital, Sweden) Registration: https://zoom.us/webinar/register/WN_NndKEIeKQDSdxkFvlKWgJw Organised by EURO-NMD in collaboration with ERN-RND.
DMD: positive results from Viltolarsen confirmed over four years
The first publication of the results of the phase II clinical trial of Viltolarsen in 16 boys with DMD aged between 4 and 9 years in May 2020 showed that it induced a significant increase in the overall level of dystrophin in the muscle, accompanied by functional improvement after six months of treatment. In this … [Read more]
Facial recognition to help assess myasthenia gravis patients
Dutch researchers have investigated innovative techniques for objectively and automatically assessing facial muscle deficits in patients with myasthenia gravis : data from 70 myasthenia patients were compared with data from a group of healthy subjects, the analysis was based on protocolised video recordings of facial movements to which two distinct methods were applied, one using … [Read more]
Retinal damage in ALS and Kennedy disease
Italian researchers studied patients with amyotrophic lateral sclerosis (ALS) or Kennedy disease for one year to determine the prevalence of associated retinal anomalies: the clinical and paraclinical data of 30 patients with ALS and 37 with Kennedy disease were compiled and compared with a control group, the thickness of the peripapillary retinal nerve layer (pRNFL) … [Read more]
Efficacy of leuprorelin combined with robotic exoskeleton-assisted rehabilitation in Kennedy disease: a case report
HAL® (Hybrid Assistive Limb) is a portable limb motor assistance device connected to the user via biofeedback based on cybernetic technologies and used in rehabilitation. It improved walking distance for two minutes, walking speed over 10 metres and muscle testing in 24 people with neuromuscular diseases taking part in a controlled cross-over trial between March … [Read more]
Good tolerability of Spinraza® 28 mg in SMA
The results of the first of three parts of the DEVOTE trial evaluating higher doses of Spinraza® (nusinersen) have been published: this first part involved six patients with SMN1-related proximal spinal muscular atrophy (SMA), aged between 6 and 12 years, whose symptoms appeared after the age of 6 months and who were followed up for … [Read more]
