Cardiac muscle involvement is not a rare complication in muscle disorders as is most commonlyseen in muscular dystrophies. Hypertrophic and/or dilated cardiomyopathy progresses in parallel with disease progression in most of patients with Duchenne and Becker muscular dystrophies, though cardiac failure mayprecede skeletal muscle symptoms, especially in Becker form. Cardiac muscle involvement is...

Dystrophin, its functions and the consequences of its absence are briefly reviewed. The animal model of Duchenne myopathy, the mdx mouse, was used to over-express utrophin by transgenesis technology. A battery of functional tests, including mechanical responses (force development and resistance to imposed stretch), intracellular calcium homeostasis and metabolic reaction to muscle activity were...

Orthopnoea is commonly attributed to heart failure but can be caused by diaphragm weakness, which, when severe, is often associated with hypercapnic respiratory failure. Bilateral diaphragm weakness is generally due to systemic nerve or muscle disease and usually occurs in the setting of severe generalized muscle weakness, but the diaphragm can be the initial or only muscle involved. Here, we r...

A case is reported of a 39-year-old woman with recurrent rhabdomyolysis caused by minor S. pyogenes tonsillitis. She was diagnosed with the adult form of CPT-II deficiency. Molecular analysis revealed compound heterozygosity for a common c.338C > T (p.Ser113Leu) mutation in exon 3 and a most likely pathogenic c.200C > G (p.Ala67Gly) variant in exon 2. Here we discuss the case, along with a clin...

Peripheral artery disease is an atherosclerotic disease of arterial vessels that mostly affects arteries of lower extremities. Effort induced cycles of ischemia and reperfusion lead to increased reactive oxygen species production by mitochondria. Therefore, the pathophysiology of peripheral artery disease is a consequence of metabolic myopathy, and oxidative stress is the putative major operati...

McArdle disease is a rare disorder of skeletal muscle carbohydrate metabolism, with an estimated prevalence between 1: 100,0001:167,000 [1]. Affected individuals have mutations in both alleles of the PYGM gene, which encodes myophosphorylase, the skeletal muscle isoform of glycogen phosphorylase. McArdle disease is equally represented in both sexes and is inherited in an autosomal recessive man...

Pompe disease (PD; acid maltase defi ciency or glycogen storage disease type II) is an autosomal recessive inherited, potentially treatable metabolic myopathy with heterogeneous clinical presentations and with considerable overlap of signs and symptoms found in other neuromuscular disorders. According to previous reports, patients with PD have been incorrectly diagnosed for several years as lim...

lemmal and intermyofibrillar accumulation of glycogen. There was no lactate increase during the grip test, and grip strength was reduced to less than one third of normal strength. An in vitro glycogenolysis/glycolysis study was performed on muscle and revealed a metabolic block below fructose 6 phosphate. PFK activity in muscle was totally absent. A new homozygous mutation was detected in PFKM ...

Background: The TTN gene is related to a broad phenotype spectrum including tibial muscular dystrophy, hereditary myopathy with respiratory failure, limb girdle dystrophy 2J and dilated or hypertrophic cardiomyopathy. In 2014, Chauveau et al, described phenotypes cardiac septal defects, left ventricular non-compaction, Emery-Dreifuss arthrogryposis. 2020, Savarese showed most of patients bialle...

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2-3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have reported variable results with some studies suggesting this gene defect may cause symptoms of a ...