Myology research highlights
RSS feedA promising ex vivo gene therapy for Pompe disease
International researchers have developed a lentivirus-based gene therapy which they have tested in a mouse model of Pompe disease: the lentiviral vector is used to incorporate the drug gene into the host genome, in this case the mouse model of Pompe disease, The target tissue was haematopoietic stem cells, the efficacy in producing the enzyme … [Read more]
Mavacamten for 4 weeks does not improve the condition of mice models of nebulin-related nemalin myopathy
In muscle fibers from individuals with nebulin-related nemaline myopathy (NEB-NM) and in NEB-NM mouse models, the proportion of myosin in the disordered relaxed state and ATP consumption are abnormally increased, accompanied by a reshuffling of the energy proteome of these cells. Mavacamten, which reduces the amount of myosin in the disordered relaxed state in hypertrophic … [Read more]
Loss of function of JPH1, which encodes junctophilin, causes congenital myopathy
Four individuals from unrelated consanguineous families, two of European origin, one of Khmer origin and one of Middle Eastern origin all presented with congenital myopathy with: neonatal hypotonia, difficulty sucking, cleft palate, club feet ; generalized weakness predominantly in the lower limbs; myopathic facies, bilateral ptosis, ophthalmoplegia and fatigability; muscle biopsy revealed a predominance of … [Read more]
Riboflavin transporter deficiency: the importance of treating early, even if it doesn’t solve everything
A retrospective study describes a population of 11 children with riboflavin transporter deficiency (RTD) type 2, all carriers of mutations in the SLC52A2 gene, followed up between 2012 and 2022: the most frequent first symptom was ataxia (n=9), followed by hearing loss (n=4), nystagmus (n=2) and upper limb weakness (n=1); the mean age of onset … [Read more]
Cerebral abnormalities in dysferlinopathies?
Slovakian and Austrian clinicians report the case of a family in which dysferlin deficiency was identified at the same time as structural and functional cerebral anomalies: the non-consanguineous family included four individuals (two sisters and two brothers) with a predominantly distal muscle phenotype (Miyoshi type), two pathological variants of the DYSF gene were identified (c.4076T>C … [Read more]
Thrombotic microangiopathy: a formidable complication of gene therapy
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal muscular atrophy (SMA): thrombotic microangiopathy (TMA) is an immune runaway phenomenon linked to complement activation, with potentially dramatic consequences, Based on published data and their real-life experience with SMA, the … [Read more]
A multi-factorial approach to urinary disorders in DMD
Turkish physiotherapists report on their experience in assessing symptoms, disorders and signs of the lower urinary tract in children with Duchenne muscular dystrophy (DMD): 45 children and adolescents aged 5-18 years with DMD were included in the study, Assessments included a functional score assessing bladder emptying and the risk of urinary incontinence, a Vignos score, … [Read more]
Clinical and biological markers to differentiate between ocular and generalised forms of myasthenia gravis
Danish clinicians reviewed 350 records of patients with ocular or generalised forms of autoimmune myasthenia : clinical, electrophysiological and serological data were compiled and compared, 15.7% of patients had ocular myasthenia, the onset was later than in generalised forms, with lower levels of autoantibodies against the acetylcholine receptor (ARch), diagnostic odyssey was also longer, and … [Read more]
Towards a better assessment of complex cases of titinopathy
The large size of the TTN gene encoding titin and the existence of numerous isoforms make it difficult to interpret genomic variants. An international consortium provides an update on this issue: 12 cases of suspected titinopathy, one of which had already been published, have been the subject of further studies with the aim of determining … [Read more]
Belgian family confirms possible link between HLA-DRB1*11:01 and statin-induced myositis
In Belgium, a father and daughter : developed autoimmune necrotising myopathy with HMGCR autoantibodies a few years apart, following treatment with statins; are both carriers of HLA-DRB1*11:01, a variant already identified as being more frequent in this disease. The case of this Belgian family strengthens the hypothesis of genetic susceptibility to autoimmune myositis. Investigation of … [Read more]
