Myology research highlights

This study aimed to examine muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to quadriceps femoris. Additionally, to evaluate whether elements of the tool correlate with clinical measures of … [Read more]

Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is caused by contraction of the D4Z4 repeat array on chromosome 4 to a size of 1-10 units. The residual number of D4Z4 units inversely correlates with clinical severity, but significant clinical variability exists. Each unit contains a copy of the DUX4 retrogene. Repeat contractions are associated with changes … [Read more]

Utrophin is a potential therapeutic target for the fatal muscle disease, Duchenne muscular dystrophy (DMD). In adult skeletal muscle, utrophin is restricted to the neuromuscular and myotendinous junctions and can compensate for dystrophin loss in mdx mice, a mouse model of DMD, but requires sarcolemmal localization. NFATc1-mediated transcription regulates utrophin expression and the LIM protein, … [Read more]

The long-term efficacy of prednisolone (PSL) therapy for prolonging ambulation in Japanese patients with genetically confirmed Duchenne muscular dystrophy (DMD) was evaluated in this study. Clinical trials have shown a short-term positive effect of high-dose and daily PSL on ambulation, whereas a few studies have shown a long-term effect. “Real-life” observation is particularly lacking in … [Read more]

Progressive scoliosis, pelvic obliquity and increasing reduction of pulmonary function are among the most significant problems for patients with SMA type II and SMA type III once they have lost the ability to walk. The aim of this study was to examine and document the development and natural course of scoliosis in patients with spinal … [Read more]

Muscle diseases may have various clinical manifestations including muscle weakness, atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system…) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high … [Read more]

Charcot-Marie-Tooth 1A (CMT1A) is a demyelinating hereditary neuropathy whose pathogenetic mechanisms are still poorly defined and an etiologic treatment is not yet available. An abnormally high intracellular Ca2+ concentration ([Ca2+ ]i ) occurs in Schwann cells from CMT1A rats (CMT1A SC) and is caused by overexpression of the purinoceptor P2 × 7. Normalization of the Ca2+ levels … [Read more]

Autosomal recessive Charcot-Marie-Tooth disease (AR-CMT) is often characterized by onset in early childhood and severe phenotype compared to the dominant forms. CMT disease associated with periaxin gene (PRX) is rare and characterized by demyelination limited to the major peripheral nerves. Following the discovery of a high frequency of a specific periaxin gene mutation (E1085fsX4 homozygote) … [Read more]

GNE (Glucosamine [UDP-N-acetyl]-2-epimerase/N-acetylmannosamine kinase) myopathy, also known as distal myopathy with rimmed vacuoles (DMRV), hereditary inclusion body myopathy (hIBM), quadriceps-sparing myopathy or Nonaka myopathy, is a clinicopathologically distinct distal myopathy with autosomal-recessive mode of inheritance. Mutations in the GNE gene are known to cause this form of distal myopathy. Over the last 6 years, a … [Read more]

Late-onset Pompe disease is a rare, but potentially treatable metabolic myopathy, and therefore should not be overlooked. However, it is not unusual that patients go undiagnosed for many years. The authors hypothesized that patients with late-onset Pompe disease may have been overlooked in a population of patients with unclassified neuromuscular disease. They used DBS (dried … [Read more]