Blog Archives

Duchenne muscular dystrophy (DMD) is the most common X-linked neuromuscular disorder. When boys with DMD reach the second decade of life, they lose their ability to walk and become wheelchair dependent. Standing devices and orthoses are considered to be an essential component in the therapy management of DMD. Clinical opinion and research from other neurological … [Read more]

Sarconeos (BIO101), developed by Biophytis, is a drug molecule designed to combat sarcopenia. It promotes muscle regeneration and the maintenance of muscle strength by stimulating muscle protein synthesis and energy production, via the MAP kinase signalling pathways. The FDA has given its approval in the United States for the MYODA plan, in the context of … [Read more]

The pathogenic mechanisms for idiopathic myositis (or inflammatory myopathies) are becoming ever clearer. In particular, they involve interferons (IFNs), whose role has been demonstrated by the transcriptome analysis of tissues or cells taken from patients with myositis, which shows an increase in the expression of IFN stimulated genes (ISGs): there is talk of an “interferon … [Read more]

Myotonic dystrophy type 1 (DM1) is a life-threatening and chronically debilitating neuromuscular disease caused by the expansion of a CTG trinucleotide repeat in the 3′ UTR of the DMPK gene. The mutant RNA forms insoluble structures capable of sequestering RNA binding proteins of the Muscleblind-like (MBNL) family, which ultimately leads to phenotypes. In this work, … [Read more]

The prevalence of arterial hypertension in mitochondrial diseases remains unknown. Between January 2000 and May 2014, a team of French clinicians, including clinicians from the Institut of Myology, retrospectively included patients with genetically proven mitochondrial diseases. We recorded clinical, genetic and cardiac exploration data, including the measure of arterial pressure. Among the 260 patients included … [Read more]

Translarna (ataluren) is the first drug to have obtained a conditional marketing authorization in Europe, in Duchenne muscular dystrophy: On July 31, 2014, the conditional marketing authorization was issued by the EMA only for children with DMD aged 5 years and over, walking and having a nonsense mutation in the DMD gene. On May 31, … [Read more]

The coordinated expression of myogenic regulatory factors, including MyoD and myogenin, orchestrates the steps of skeletal muscle development, from myoblast proliferation and cell-cycle exit, to myoblast fusion and myotubes maturation. Yet, it remains unclear how key transcription factors and epigenetic enzymes cooperate to guide myogenic differentiation. Proteins of the SMYD (SET and MYND domain-containing) methyltransferase … [Read more]

Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). Overexpressed PMP22 protein from its gene duplication is thought to cause demyelination and subsequently axonal degeneration in … [Read more]

Loss of ambulation in Duchenne muscular dystrophy presages scoliosis, respiratory failure, and death. Strategies to maintain ankle range of motion are employed, but little evidence exists to support these approaches and limited information is available concerning current practice. In this study the researchers assessed baseline bracing data from 187 boys participating in a multicenter, international … [Read more]