Blog Archives
Challenges facing people with primary mitochondrial myopathy
An article on primary mitochondrial myopathies has been published by the Mitochondrial Medicines Society (MMS) and the United Mitochondrial Disease Foundation (UMDF): it highlights and provides information on the challenges faced by people with this disease: visible and stigmatising symptoms that worsen, reduced autonomy, social isolation, lack of treatment, etc. it encourages professionals and patients … [Read more]
The phenotype of patients with SMA carrying 4 copies of the SMN2 gene varies significantly
The Italian ITASMAC network dedicated to spinal muscular atrophy (SMA) studied 169 individuals, children or adults, with a homozygous deletion of the SMN1 gene and four copies of the SMN2 gene, and not treated by innovative therapy: the sex ratio showed a clear male predominance (102/169), 6 patients were presymptomatic children, 8 had type II … [Read more]
A bone marrow tumour discovered late after treatment with Zolgensma®: case report
American clinicians report the observation, unique to date, of a child diagnosed with SMA in the neonatal period and then treated with gene therapy (Zolgensma® or onasemnogene abeparvovec), who presented neurological signs suggestive of spinal cord compression from the age of 14 months: the patient’s genotype was 0 copies of the SMN1 gene and 3 … [Read more]
When smartphones and AI combine to assess myasthenia gravis in real life
UCB and Sharecare conducted a three-month prospective real-life study in the United States involving 82 patients with moderate to severe autoimmune myasthenia gravis. The participants sent selfie videos to the investigators, which were analysed automatically by a margin reflex distance (MDR1) measurement tool developed using an artificial neural network: these measurements proved to be effective, … [Read more]
A study of drug management of neurobehavioural disorders in DMD
A team analysed the medical records (66 prescriptions) of 52 boys with Duchenne muscular dystrophy (DMD), aged 11 on average, who had received drug treatment for neurobehavioural disorders between 2008 and 2022 in two hospitals in Belgium and the Netherlands: the most common neurobehavioural disorders are attention disorders (64%), emotional and behavioural disorders (60%) 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 (“congenital”). This document, presents research news … [Read more]
New tools for assessing the follow-up of two forms of muscular dystrophy
Monitoring, either as part of the usual follow-up of patients with muscular dystrophy or as part of clinical trials, is largely based on the use of functional scores: researchers report, in association with Duchenne muscular dystrophy (DMD) patient associations, the development of an upper limb function scale centred on the needs and feelings of patients … [Read more]
Significant drug iatrogenicity in late myasthenia gravis
A retrospective study of the medical data of 493 people suffering from autoimmune myasthenia followed by the university hospital centres of Strasbourg, Lyon, Grenoble and Angers reveals that the disease began after the age of 70 for 28% of them. Among these older patients : 76% improved with treatment during follow-up, despite lower doses, 41% … [Read more]
Results of the phase II-III trial of AMO-02 in congenital DM1
The results of the international REACH-CDM trial involving 56 children aged between 6 and 16 with the congenital form of myotonic dystrophy type 1 were announced in a press release on 6 September 2023. The primary endpoint, the Clinician-Completed Congenital DM1 Rating Scale, was not met. A significant reduction in CPK enzymes was measured in … [Read more]
Right heart involvement in DMD is a poor prognostic factor
A study of the respiratory and systolic functions of the right ventricle on Doppler echo in 90 young men with Duchenne muscular dystrophy (DMD), with a median age of 27.5 years and a median vital capacity of 10% of theoretical, showed : right ventricular systolic impairment in 46 (51%); the presence of left ventricular damage … [Read more]
