Blog Archives
FSHD combined with genuine myositis: an intriguing association
A French study involving clinicians from the Institute of Myology reports several new and disturbing cases of patients with two co-existing neuromuscular pathologies: firstly, facioscapulohumeral muscular dystrophy (FSHD), proven by molecular biology, and secondly, myositis authenticated by the presence of specific autoantibodies, of the 5 cases of this type identified in the myositis database of … [Read more]
An alternative method for injecting nusinersen intrathecally
Spanish clinicians report their experience with an unconventional injection route in the treatment of SMN1-related proximal spinal muscular atrophy (SMA) with nusinersen : six patients with SMA, including five with type II and one with type III, benefited from this treatment due to the impossibility of using the lumbar route, Five were over 18 years … [Read more]
International recommendations for the child-adult transition in DMD
A group of international experts has drawn up international recommendations concerning the transition of patients with Duchenne muscular dystrophy (DMD) from paediatric to adult age: in real life, this pivotal period is often synonymous with loss of follow-up, which can be detrimental to the functional future of the DMD patient, Even though feedback varies from … [Read more]
Positive phase I/II results for brogidirsen in Duchenne muscular dystrophy
Brogidirsen is a dual-targeting phosphorodiamidate morpholino oligomer (PMO) antisense oligonucleotide composed of two sequences targeting exon 44 of the DMD gene in Duchenne muscular dystrophy. A Japanese phase I/II clinical trial involving six patients aged between 4 and 13 years demonstrated its ability to partially restore dystrophin expression. Of the six patients, five had a … [Read more]
DMD: an effective gene therapy in a severe mouse model of the disease leads to cardiac inflammation
Duchenne muscular dystrophy, a severe and progressive hereditary muscular dystrophy, is caused by mutations in the DMD gene leading to the loss of a protein essential for muscle function, dystrophin. There is currently no effective treatment, but gene therapy trials using micro-dystrophins have been underway for several years. These strategies, targeting both skeletal and cardiac muscle, are applicable to all … [Read more]
Impaired social cognition in DMD
An Italian team carried out a neuropsychological evaluation of 20 patients with Duchenne muscular dystrophy (aged between 7 and 17), and in particular their social cognitive abilities. The patients performed less well on items concerning theory of mind and affect recognition, both in the presence and absence of another cognitive deficit. Only two previous studies … [Read more]
A case report of 20 congenital titinopathies due to an exon variant of the single metatranscript
The TTN gene, which comprises 363 exons, is subject to numerous alternative splicing events. The exons excluded or partially included in the main isoforms of skeletal muscle (N2A isoform) or cardiac muscle (N2B isoform) are defined as ‘metatranscript-only exons’ (MTT-only exons) and are thought to be expressed only during foetal muscle development. A retrospective study … [Read more]
Hearing difficulties found in CMT 1 disease
While clinical studies suggest that patients with Charcot-Marie-Tooth (CMT) disease may suffer from ‘hidden’ deafness, a recent Dutch study used self-questionnaires to assess the hearing difficulties of these patients and their repercussions in everyday situations. The study included 42 patients with CMT1, 30 with CMT2 and 72 matched controls. Patients with CMT1 were found to … [Read more]
Atypical cases of FSHD type 1 sometimes conceal another condition
Researchers in Nice, in collaboration with several European teams, have compiled the clinical and genetic data of 157 patients with facioscapulohumeral muscular dystrophy type 1 (FSHD1) followed at their centre: the vast majority had a phenotype and genotype classified as classic, a small group, reduced to 27, showed clinical atypia, additional studies (whole exome, mitochondrial … [Read more]
Keys to understanding the risk of post-gene therapy myositis in DMD
The teams responsible for developing a gene therapy (GT) mediated by a recombinant adenovirus-associate for Duchenne muscular dystrophy (DMD), delandistrogene moxeparvovec (a gene therapy authorised in the United States under the name Elevidys®), are reporting the results of immunological studies carried out following the occurrence of undesirable side-effects: two cases of severe myositis occurred in … [Read more]
