Blog Archives
Hair dye implicated in myasthenic attacks
A 43-year-old woman was diagnosed with myasthenia gravis after a myasthenic crisis requiring intubation, intravenous immunoglobulins and corticosteroids. Taking pyridostigmine 60mg twice a day, she had another myasthenic attack three months later with fatigue, shortness of breath and headaches for a fortnight. Two weeks before each attack, the patient had dyed her hair red the … [Read more]
Severe gastrointestinal disorders are relatively common in adults with DMD
In a cohort of 80 adults with Duchenne muscular dystrophy (DMD) followed annually by the Radboud Centre in the Netherlands : six patients presented acute gastrointestinal disorders leading to hospitalisation, sometimes in intensive care, they were on average 29 years old at the time of their first admission for this reason, in order of frequency … [Read more]
A French study on quality of life in non-dystrophic myotonia
The responses of 47 patients with non-dystrophic myotonia to a French questionnaire on the impact of myotonia (French IMPACT survey 2022) showed that : the main symptoms reported were muscular stiffness (98%), muscular pain (83%), falls (70%) and anxiety (77%), which had a severe impact on their daily lives; a large majority of patients (96%) … [Read more]
Italian study confirms phenotypic heterogeneity of hereditary P0 neuropathy
Italian clinicians participating in the national registry of Charcot-Marie-Tooth (CMT) disease have compiled the clinical and biological data of patients in whom a pathological variant of the MPZ gene (encoding the P0 protein) has been identified: the registry sample represented a total of 186 patients, they all belonged to one of the five clusters of … [Read more]
First-line rituximab as effective alone as in combination with corticosteroids in myasthenia gravis
The Nice University Hospital conducted a single–centre retrospective study based on data from 68 patients treated in thefirst line with rituximab for a generalised form of myasthenia gravis. It was severe in more than half the cases (MGFA score greater than or equal to 3) and with anti-MuSK autoantibodies in 4.76% of cases. In this cohort … [Read more]
Dominant CACNA1S mutations: pure myopathic forms are possible
Dominant mutations of the CACNA1S gene most often cause hypokalemic periodic paralysis or malignant hyperthermia. The team at the Brussels Neuromuscular Reference Centre reports the case of a 65-year-old man with progressive proximal muscle weakness that began at the age of 35, without any transient paralysis: his mother, who had been in a wheelchair since … [Read more]
An update on distal hereditary motor neuropathies
This article reviews the various aspects (clinical, genetic, pathophysiological and therapeutic) of this group of heterogeneous inherited diseases characterized by slowly progressive pure distal motor neuropathy and normal motor and sensory conduction velocities. Over thirty genes are associated with these purely motor pathologies, which Harding classified into seven major clinical groups: four with autosomal dominant … [Read more]
A benefit-risk balance against anticholinesterase drugs in anti-MusK myasthenia gravis
Autoimmune myasthenia with anti-MuSK autoantibodies (about 8% of patients) has a unique phenotype, as does its response to treatment, particularly anticholinesterase drugs. The results of a retrospective study carried out in Italy on 202 patients followed up at an expert center demonstrate this: 81.6% of them were already on anticholinesterase medication prior to admission, of … [Read more]
Positive opinion from the HAS on the national expansion of newborn screening for SMA
AFM-Téléthon is delighted with the positive opinion issued by the French National Authority for Health (HAS) concerning the extension of neonatal screening for spinal muscular atrophy (SMA) to the entire French territory. This significant step forward is based in particular on the results of the Depisma pilot programme, launched in early 2023 by AFM-Téléthon in … [Read more]
Targeting the ACVR1 gene or interleukin-1 in fibrodysplasia ossificans progressiva
Two of the therapeutic avenues explored in fibrodysplasia ossificans progressiva (FOP) have been the subject of recent publications: a report of four cases of administration of interleukin-1 inhibitors (anakinra and canakinumab) for up to six years in patients aged between 23 months and 15 years, with a significant reduction in disease flare-ups from 1.51 to … [Read more]
