Blog Archives
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]
Study of the cardiac fibroblast phenotype derived from IPS stem cells from patients with DMD
A European consortium of researchers has studied the biological and molecular characteristics of cardiac fibroblasts generated from induced pluripotent stem cells (IPSCs) from Duchenne muscular dystrophy (DMD) patients and control subjects: these supporting tissue cells do not express full-length dystrophin like muscle fibres, these fibroblasts show profound changes in their biochemical profiles, with activation of … [Read more]
The distribution of genetic anomalies in CMT in China reveals differences in the paediatric population
Chinese researchers have studied the genotype of 181 children with all-types Charcot-Marie-Tooth disease: several techniques were used: search for duplication/deletion of the PMP22 gene, CMT panel, whole exome, etc. 68% of patients had genetic confirmation of their disease, demonstrating a good diagnostic yield, CMT1A (duplication of the PMP22 gene) remains the most frequent aetiology, followed … [Read more]
How scoliosis and scoliosis surgery affect lifespan in DMD
A retrospective study carried out between January 2000 and August 2022 by Scottish surgeons on 113 patients with Duchenne muscular dystrophy (DMD) showed that 43 of them (38%) had posterior spinal fusion for scoliosis (33) or kyphoscoliosis (10). The age at surgery ranged from 10 years 9 months to 18 years 3 months, with a … [Read more]
