Blog Archives
Appropriate use of mexiletine in myotonic dystrophy: a consensus in France
Experts in Steinert disease (DM1) have just produced recommendations concerning the use of mexiletine, a class I anti-arrhythmic agent which may improve the lack of muscle relaxation (myotonia): three neurologists and five cardiologists took part in the working group, data from the literature and experience gained from prescribing this drug off-label were taken into account, … [Read more]
ERN EURO-NMD webinar, 3 Sept. : Nawel Lalout (NL) & Dagmar Wandrei (DE)
The ERN EURO-NMD Registry Hub Project Tuesday 3 September 2024 – 16:00 Paris time Nawel Lalout (Radboudumc, NL) & Dagmar Wandrei (Medical Center – University of Freiburg, DE) > + infos Gene Therapy webinar series Organised by EURO-NMD in collaboration with ERN-RND.
Data on quality of life in hypokalaemic periodic paralysis
Forty-nine patients with hypokalaemic periodic paralysis linked to CACNA1S completed a quality of life questionnaire (INQoL). The symptoms with the greatest impact on their quality of life were muscle weakness and fatigue. The older the patients, the poorer their quality of life scores. These symptoms are thought to be due mainly to permanent and progressive … [Read more]
SMA: chronic pain is common, particularly in adolescence
Analysis of data from the Swiss neuromuscular disease register relating to 141 patients with SMN1-related proximal spinal muscular atrophy (SMA) shows that : 28 had type I SMA, 59 type II, 51 type III and three of undetermined type because they were treated in the asymptomatic phase; 48% of the 67 adults, 62% of the … [Read more]
3,4-diaminopyridine may improve VAMP1-related congenital myasthenic syndromes
In 2017, mutations in VAMP1 were implicated in a congenital presynaptic myasthenic syndrome. Since then, nine autosomal recessive cases with hypotonia, facial weakness, fatigability, bulbar involvement and delayed motor acquisition have been described. Five new cases were reported in May 2024. Their description confirms the severity of the bulbar and motor impairment; all had scoliosis … [Read more]
Properties of the functional scale used in inclusion myositis
An Anglo-Saxon consortium studied the psychometric properties of the IBMFRS (Inclusion Body Myositis Functional Rating Scale), the reference scale used in patients with inclusion myositis (IBM): to this end, the investigators retrospectively analysed the IBMFRS data accumulated during a multicentre clinical trial involving 150 patients with IBM, over a total period of 20 months, all … [Read more]
GNE myopathy: the absence of sialic acid in adulthood is not pathological in mice
Israeli researchers have developed a mouse model of GNE myopathy, in which they induce GNE deficiency in the muscle and liver in adulthood. These mice show no signs of functional or structural muscle damage. Despite a severe reduction in the amount of sialic acid in the liver and muscle, they showed no abnormal behaviour or … [Read more]
European recommendations for late-onset Pompe disease summarised by the three-S rule
The European consortium for Pompe disease has updated its recommendations on enzyme replacement therapy (ERT) for this metabolic myopathy. The considerable hindsight now available on this treatment, its potential benefits and its real-life results were taken into account, as was the arrival of alternative (and/or new-generation) therapies. Three topics in particular were addressed by the … [Read more]
Inherited motor neurone diseases are not limited to amyotrophic lateral sclerosis
The team at the Centre de référence pour la sclérose latérale amyotrophique et pour les maladies neuromusculaires rares ‘AOC’ (Reference Centre for Amyotrophic Lateral Sclerosis and Rare Neuromuscular Diseases) is reporting on the diversity of the main hereditary motor neurone diseases throughout their history. Many were described as early as the end of the 19th … [Read more]
Primary administration of biphosphonates is less deleterious than expected, but remains to be monitored, particularly in DMD
British clinicians have studied the side effects of the first venous administration of biphosphonates to combat osteoporosis: the records of 107 children who had received biphosphonates for inflammatory or genetic diseases (including Duchenne muscular dystrophy or DMD) were analysed retrospectively, the frequency of immediate complications and the length of hospitalisation were taken into account, in … [Read more]
