PURPOSE OF REVIEW Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy is an adult-onset autosomal recessive, slowly progressive and debilitating myopathy due to mutations in the gene that regulates the synthesis of sialic acid. This review aims to update our knowledge of this myopathy and to review studies about pathomechanism and therapeutic strategies. RECENT FINDINGS...

Nemaline myopathy is a rare congenital myopathy that generally presents in childhood. We report a case of a 44-year-old man who presented with severe hypoxic hypercapnic respiratory failure as the initial manifestation of nemaline myopathy. After starting noninvasive ventilation, his pulmonary function test results improved substantially, and over the 4 years since diagnosis his respiratory fun...

This syndrome is a shock-like hyper metabolic myopathy triggered in susceptible animals by stress. Capture myopathy (C.M.) is a commonly occurring condition in mammals following trapping and transportation. In this case 12 to 24 hours after transportation of red deer (Cevus elaphus) and wild goats (Capra ibex) clinical signs such as: muscular tremor, ataxia, recumbency, hyperthermia, tachyca...

We report three adolescent patients with osteomalacia who presented initially with clinical features consistent with proximal myopathy. All patients had low serum level of 25 hydroxy vitamin D. Furthermore, radiological investigations confirmed osteomalacia. Myopathy responded well to appropriate treatment of osteomalacia. Possible pathophysiologic explanation of myopathy in patients with osteo...

We present a 25 year follow up of two siblings with autosomal recessive (AR) oculopharyngodistal myopathy. Remarkable in these patients, in comparison with patients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of onset, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included baso...

Cancer cachexia is a debilitating multi-factorial wasting syndrome characterised by severe skeletal muscle and dysfunction (i.e., myopathy). In the oncology setting, arises from synergistic insults both cancer–host interactions chemotherapy-related toxicity. The majority of studies have surrounded interaction side cancer cachexia, often overlooking capability chemotherapy to induce cachectic my...

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...

)ften difficult. Often, clinical tésting of the sensory :uflctions is neither reliable nor helpful in the determination. Theoretically, predominant proximal . veakness, neck flexor weakness, and facial weakness occur more often in patients with myopathy. Dn needle electromyography, low amplitudes and short duration of the motor unit potentials suggest myopathy. Normal sensory nerve action poten...

Myopathies related to critical illness have received increasing recognition over the past decade and are common in patients even after a brief period in the intensive care unit. Recent studies have revealed that myopathies in the critically ill may in fact be more prevalent than neuropathies and that morbidity and mortality may be greater. Protein catabolism, an increase in urinary nitrogen los...