Statins lower cholesterol by inhibiting 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, the rate-limiting enzyme in the biosynthesis of cholesterol. However, severe adverse events, including myalgias and rhabdomyolysis, have been reported with statin treatment. Different mechanisms have been proposed to explain statin-induced myopathy, including reduction of mevalonate pathway produc...

Centronuclear myopathy is a lethal muscle disease. The most severe form of the disease, X-linked centronuclear myopathy, is due to mutations in the gene encoding myotubularin (MTM1), while mutations in dynamin 2 (DNM2) and amphiphysin 2/BIN1 (AMPH2) cause milder forms of myopathy. MTM1 is a lipid phosphatase, and mutations that disrupt this activity cause severe muscle wasting. In this issue of...

Anti-SRP myopathy represents 4 to 6% of all the inflammatory myopathies. It has been described since the 80s and its influence on pregnancy and vice versa has been highlighted recently. We report two cases of anti-SRP myopathy associated with pregnancy. In the first case, the initial manifestations of the disease started in post partum and the second case was an anti-SRP myopathy patient before...

mitochondrial disorders (mids) require biochemical or genetic investigations for being diagnosed. in some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. the patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. th...

Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease. Here, we describe a 45-year-old man who presented to The Children's Hospital of Philadelphia Mitochondrial-Genetics Diagnostic Clinic for evaluation of progressive cardiac, neurom...

A 21 year old male ingested podophyllin in a suicide attempt. The disorder was marked by seizures, coma, peripheral neuropathy, renal failure and acute necrotizing myopathy, an unusual finding. The coma and systemic disturbances resolved within three weeks. The myopathy resolved in 7 weeks, demonstrating a high capacity of muscle recuperation. The sensorimotor peripheral neuropathy persisted un...

The patient with vitamin D deficiency may manifest with osteomalacic myopathy which has been reported in females with poor nutrition and inadequate sun exposure, especially in community with Purdah practice in India. Clinical features of osteomalacic myopathy are painful symmetric proximal muscle weakness, waddling gait and brisk tendon jerks. We report a case of osteomalacic myopathy in a 25 y...

Centronuclear myopathies are clinically and genetically heterogenous diseases with common histological findings, namely, centrally located nuclei in muscle fibers with a predominance and hypotrophy of type 1 fibers. We describe two cases from one family with autosomal dominant centronuclear myopathy with unusual clinical features that had initially suggested distal myopathy. Clinically, the pat...

We report an autopsy case of a 35-yr-old man with familial visceral myopathy, a cause of primary intestinal pseudo-obstruction. The patient died from complications of familial visceral myopathy, sepsis, and generalized signet-ring cell carcinomatosis. The patient had massive distension of the large and small intestines, a dilated thickened esophagus, and fibroneoplastic adhesions between intra-...

Zidovudine (3-azido-3'-deoxythymidine), also referred to as azidothymidine (AZT), has become an integral component in highly active antiretroviral therapy, and has also been used in the treatment of cancer. The clinical effectiveness of AZT is constrained due to its association with increased adverse effects, such as myopathy. There are numerous potential mechanisms that may contribute to AZT-i...