Blog Archives
Sugar before exercise, but not after the second breath in McArdle’s disease
A Dutch-Danish team conducted a randomised, double-blind, placebo-controlled crossover study involving nine patients with McArdle’s disease, or type V glycogenosis: ingestion, 10 minutes before the start of a 60-minute submaximal exercise test on an ergocycle, of a sweetened sports drink (in this case Faxe Kondi©) did result in a significant improvement in exercise tolerance, as … [Read more]
A simple algorithm for predicting respiratory impairment in myotonic dystrophies
German researchers have developed a method to better detect ventilatory disorders in patients with DM1 or DM2 myotonic dystrophy. The method is based on a checklist known as “Respicheck”, which takes into account several clinical parameters coupled with functional respiratory tests: 172 people took part in a complementary study to validate Respicheck, 74 had DM1, … [Read more]
The French experience of intolerance to ERT in certain patients with Pompe disease
Hypersensitivity phenomena of various kinds occur in certain patients with late-onset Pompe disease receiving venous enzyme replacement therapy (ERT). The French consortium in charge of this myopathy, which includes clinicians from the Institut de Myologie, has compiled documented cases of intolerance to ERT using data from the French Pompe disease register: just over 10% of … [Read more]
Japanese study identifies cardiac determinants of sudden death in DM1
Sudden death is a not uncommon event in the evolution of patients suffering from myotonic dystrophy type 1 (DM1). Japanese researchers have analysed the clinical, genetic and pathological data from three of these patients who died prematurely: the three patients, one male and two females, were aged 18, 25 and 35 respectively; only the 25-year-old … [Read more]
Myotubular myopathy: in zebrafish, hepato-biliary damage is due to loss of function of myotubularin
A North American team has characterised the liver phenotype of a zebrafish model of myotubular myopathy. The loss-of-function anomaly in mtm1 results in impaired bile flow and structural anomalies in the bile canaliculi, with inadequate endosomal trafficking of bile transporters. Hepatocyte re-expression of myotubularin 1 is sufficient to at least partially restore these abnormalities. Two … [Read more]
DMD: Canadian respiratory data in real life
Using data from the Canadian Neuromuscular Disease Registry, collected by 36 centres, a cross-sectional study of real-life respiratory data from 323 patients with Duchenne muscular dystrophy (DMD), aged between 2 and 36 years, showed that : almost one-fifth (19.5%) of 14-16 year olds were on ventilatory support, a proportion which rises to 69.2% at the … [Read more]
Sporadic nemalin myopathy with atypical skin involvement responding to immunoglobulins
A Danish team presents the case of a 59-year-old woman with atypical sporadic late-onset nemaline myopathy (SLONM): skin manifestations (redness and phlyctenes on the extremities and trunk) preceded the onset of neuromuscular symptoms by one year; the residual thymus showed follicular hyperplasia; Muscle biopsy revealed rods and abnormal mitochondria; the electromyogram revealed not only myopathic … [Read more]
An unusual phenotype in a case of Sheldon-Hall syndrome
Sheldon-Hall syndrome (SHS) is an ultra-rare genetic disease usually characterised by congenital arthrogryposis of autosomal dominant transmission. Researchers at the neuromuscular reference centre at the Hôpital Raymond Poincaré in Garches have identified a patient with SHS presenting with : a whole-body muscle imaging study showed no signs of primary muscle involvement, on the other hand, … [Read more]
An original case of congenital titinopathy in an adult
Researchers at the Créteil Neuromuscular Reference Centre (Henri-Mondor University Hospital) report the observation of a 36-year-old patient with a congenital onset of titinopathy: initial hypotonia and arthrogryposis developed into a highly retractile syndrome, muscle biopsy revealed increased internalisation of cell nuclei, variation in fibre size and predominance of type I fibres, genetic studies revealed the … [Read more]
Characteristics of and response to treatment for double seronegative myasthenia gravis
A retrospective Canadian study of 80 people with double-seronegative myasthenia for anti-RACh and anti-MuSK antibodies, compared with 73 people with myasthenia for anti-RACh antibodies, showed that : the initial proportion of people with ocular forms (46.3%) was significantly higher in the double-seronegative group than in the anti-RACh myasthenia group; the Myasthenia Gravis Impairment Index (MGII) … [Read more]
