INTRODUCTION Severe proximal myopathy can occasionally be the first presenting complaint of patients with osteomalacia. This may lead to investigations and misdiagnosis of a neuromuscular disease, rather than a metabolic bone disease. CASE PRESENTATIONS We present here two cases of severe proximal myopathy in patients who were both of South Asian origin and lacto-vegetarians: a 31-year-old In...

Muscle symptoms and signs are a frequent reason for general neurological consultations. Weakness is the most reliable clinical indicator of myopathy. Fatigue and exercise intolerance and myalgias frequently occur in non-myopathic conditions. Cramps and myoglobinuria are more often due to systemic factors than being a sign of a metabolic or other myopathy. Contractures and myotonia are rare find...

In heart failure, impairment of cardiac muscle function leads to numerous neurohormonal and metabolic disorders, including an imbalance between anabolic and catabolic processes, in favour of the latter. These disorders cause loss of muscle mass with structural and functional changes within the skeletal muscles, known as skeletal myopathy. This phenomenon constitutes an important mechanism that ...

mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (mlasa) syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. the association between myopathy and sideroblastic anemia was initially reported in 1974. here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities...

Peripheral artery disease (PAD) is a serious but relatively underdiagnosed and undertreated clinical condition associated with a marked reduction in functional capacity and a heightened risk of morbidity and mortality. The pathophysiology of lower extremity PAD is complex, and extends beyond the atherosclerotic arterial occlusion and subsequent mismatch between oxygen demand and delivery to ske...

A 23-year-old woman with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes) underwent a laparoscopy-assisted appendectomy. MELAS syndrome is a multisystemic disease caused by mitochondrial dysfunction. General anesthesia has several potential hazards to patients with MELAS syndrome, such as malignant hyperthermia, hypothermia, and metabolic acidosis. In th...

Myostatin regulates skeletal muscle size via the activin receptor IIB (ActRIIB). However, its effect on muscle energy metabolism and energy-dependent muscle function remains largely unexplored. This question needs to be solved urgently since various therapies for neuromuscular diseases based on blockade of ActRIIB signaling are being developed. Here, we show in mice, that 4-month pharmacologica...

Although it has long been known that both large and small blood vessels are abnormal in the tissues of diabetic patients, recent work has emphasized the widening of capillary basement membranes in diabetic tissues. Current views of the nature of this lesion and its relationship to diabetes are discussed and diabetic muscle and nerve lesions are emphasized. Other metabolic diseases with signifi...

Apparently new information about a metabolic abnormality has been obtained by measuring biochemical and respiratory responses to controlled exercise in a patient with abnormal mitochondria in muscle fibres. A male patient (49 years old) presented with bilateral ptosis of 15 to 20 years' duration and weakness for one to two years. Biopsies from the deltoid and triceps muscles were subjected to h...

OBJECTIVE To detect and characterise enterovirus RNA in skeletal muscle from patients with chronic fatigue syndrome (CFS) and to compare efficiency of muscle energy metabolism in enterovirus positive and negative CFS patients. METHODS Quadriceps muscle biopsy samples from 48 patients with CFS were processed to detect enterovirus RNA by two stage, reverse transcription, nested polymerase chain...