Blog Archives

  This narrative review describes the current technology, applications, outcomes, and limitations of the dynamically growing field of telehealth. Evidence for telehealth applications related to neuromuscular diseases, palliative care, specialized multidisciplinary services, and musculoskeletal care are reviewed. With growing demand for specialized services and finite resources, telehealth provides a promising avenue to promote access to … [Read more]

Dysferlinopathies are a fairly heterogeneous group of hereditary muscular dystrophies resulting in distal (Miyoshi myopathy) proximal (type 2B LGMD), or mixed (proximal-distal) muscle deficiencies. These myopathies are due to mutations in the DYSF gene encoding dysferlin, a protein involved in membrane repair processes. Dysferlinopathies occur mainly in young adults and are often preceded by a … [Read more]

Even before their publication, the promising results of the rapamycin trial were reported at a congress and communicated in the press. Current drugs commonly used in inflammatory myopathies are ineffective or even accentuate muscle weakness in the case of sporadic inclusion body myositis (IBM). Rapamycin is a good candidate drug because it acts on three … [Read more]

Exercise is known to improve muscle health and strength in healthy individuals with Duchenne muscular dystrophy (DMD), as well as positively impact other systems. Because of this, exercise has been investigated as a potential therapeutic approach for DMD. This review aims to provide a concise presentation of the exercise literature with a focus on dystrophin … [Read more]

Sleep disruption and excessive daytime sleepiness are well recognised symptoms in myotonic dystrophy type 1 (DM1), where a central dysfunction of sleep-wake regulation may play a pivotal role. Few studies evaluated sleep macrostructure in DM1, but none investigated more refined sleep variables. Eight DM1 patients (6 male, aged 20-50 years) and 10 healthy controls (7 … [Read more]

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3′-UTR of the DMPK gene elicits DM1, whereas elongated CCTG repeats in intron 1 of ZNF9/CNBP triggers DM2. Pathogenesis of both disorders is manifested … [Read more]

  Thymine kinase 2 (TK2) is a mitochondrial matrix protein encoded in nuclear DNA and phosphorylates the pyrimidine nucleosides: thymidine and deoxycytidine. Autosomal recessive TK2 mutations cause a spectrum of disease from infantile onset to adult onset manifesting primarily as myopathy. This retrospective natural history study, performed in a large cohort of patients with TK2 … [Read more]

  GNE myopathy (also known as hereditary inclusion body myopathy (HIBM)) is an adult-onset muscle disorder characterized by impaired sialylation of (muscle) glycans, detectable by lectin histochemistry. This article describes a standardized method to quantify (lectin-)fluorescence in muscle sections, applicable for diagnosis and response to therapy for GNE myopathy. The results show that Sambucus nigra … [Read more]

Myotonic dystrophy type 1 (DM1) is a dominant multisystemic disorder associated with high variability of symptoms and anticipation. DM1 is caused by an unstable CTG repeat expansion that usually increases in successive generations and tissues. DM1 family pedigrees have shown that ∼90% and 10% of transmissions result in expansions and contractions of the CTG repeat, … [Read more]

Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys. It is an X-linked recessive disease caused by dystrophin deficiency. With improved medico-surgical management, patients experience increased longevity and, as a result, a higher incidence of cardiac complications. In an article published in 2018, French myologists were interested in the predictive value of … [Read more]