Recessive mutations in the ANO5 gene, encoding anoctamin 5, cause proximal limb girdle muscular dystrophy (LGMD2L), Miyoshi-type distal myopathy (MM3) and asymptomatic hyper- CKemia. We report a woman with exertion-induced myalgia and weakness in the hip girdle manifesting at the age of 40. Creatine kinase (CK) was increased 20-fold. Histologically the dominating feature was necrotizing myopath...

A case of a renal transplant recipient with colchicine-induced myopathy is presented. He was on colchicine therapy for 10 months. He was hospitalized for investigation of fatigue, severe myalgia in the lower extremities and elevated serum aminotransferase levels. His viral markers and other factors that may cause myalgia and that may increase the serum aminotransferase levels were either normal...

A family study was carried out to clarify the problem of two separate muscle disease phenotypes in a large consanguineous pedigree. These were a severe limb-girdle type muscular dystrophy and a mild late onset distal myopathy. Thirty-two first degree and 14 other relatives of 18 previously examined index patients were available for clinical examination. Twenty-three subjects underwent computed ...

Wooden breast myopathy (WB) strongly affects the poultry industry mainly in terms of consumers rejection and economical loses, due to morphological changes broiler muscle tissue consequently low meat quality. The aim this study is evaluate histomorphometry fibers fillets broilers with severity levels WB myopathy. histological evaluation considered 30 samples pectoralis major level (ten normal f...

Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare. We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical fe...

The collagen type VI-related disorders are nowadays considered to be a continuum of overlapping phenotypes with Bethlem myopathy at the mild end and Ullrich congenital muscular dystrophy (UCMD) at the severe end. In between these phenotypes there are collagen type VI-related limb-girdle muscular dystrophy and myosclerosis myopathy. Most cases of Bethlem myopathy have autosomal dominant inherita...

Skeletal muscle abnormalities are highly prevalent in chronic heart failure and are associated with an increase in the ergoreflex, a muscle reflex stimulated by work done. Stimulation of the ergoreflex results in increased ventilation and contributes to the increased sympathetic activation of the heart failure syndrome. The origin of the skeletal myopathy is related to a chronic imbalance betwe...

Evidence suggests that most hyperthyroid patients have a proximal myopathy. The more severe this is the more frequently are distal muscles, and ultimately, bulbar muscles involved. Probably acute thyrotoxic myopathy or encephalopathy supervenes on a previous chronic background or occurs concurrently with skeletal muscle involvement. Using careful electromyographic techniques evidence of myopath...

Myopathy and the circumstances of it’s occurrence, recognition and treatment are well known as a common problem of Macropodids. Close observation of a number of kangaroos post rescue has indicated that myopathy is more common than previously thought and the relevant precipitants may be less dramatic or more subtle than expected. It may be manifest as skeletal myopathy and/or cardiomyopathy. Car...

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequent...