A 13 year old Greek girl with myasthenia gravis developed widespread muscle paralysis and atrophy after large parenteral doses of corticosteroids (5.48 g methylprednisolone). An electromyogram showed myopathy, creatine kinase concentration below normal, and a muscle biopsy showed severe myopathy with selective loss of the thick filaments (myosin). Previous reports of myopathy associated with la...

BACKGROUND Pathogenic variants in ryanodine receptor 1 (RYR1, MIM# 180901) are the cause of congenital myopathy with fiber-type disproportion, malignant hyperthermia susceptibility type 1, central core disease of muscle, multiminicore disease and other congenital myopathies. METHODS We present a patient with global developmental delay, hypotonia, myopathy, joint hypermobility, and multiple ot...

We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient's cardiac f...

Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations in myotubularin cause myotubular myopathy, a devastating congenital myopathy with unclear pathogenesis and no current therapies. Myotubular myopathy was the first described of a growing list of conditions caused by mutations in proteins implicated in membrane traffic...

background recently, several reports issued clevudine induced myopathy in the long term use. objectives the aim of this study was to investigate antiviral effects and adverse events of clevudine monotherapy in patients with chronic hepatitis b (chb). patients and methods the subjects were 110 treatment-naïve chb patients. they were treated with 30 mg clevudine/day for more than six months. viro...

pompe disease, also termed glycogen storage disease type ii or acid maltase deficiency, caused by deficient activity of acid alpha-glucosidase (gaa), the glycogen degrading lysosomal enzyme. as a result, massive lysosomal glycogen deposits in the numerous organs including the muscles. in pompe disease weakness of truncal muscles is a prominent presentation which results in respiratory failure a...

OBJECTIVE To characterize the clinical course of myopathy associated with antibodies to signal recognition particle (SRP), or anti-SRP myopathy. DESIGN Case series. SETTING Keio University Hospitals and National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan. PATIENTS We reviewed clinical features of 27 patients with anti-SRP myopathy and analyzed dis...

Myopathy of insidious onset produced by corticosteroids is well recognised. In recent years acute myopathy has been reported in patients with acute severe asthma treated with 3-4 g of intravenous hydrocortisone a day.1 2 It has been argued that to minimise the risks of this the dose should be no more than 1 g of hydrocortisone a day.2 There is evidence that 1 g/day is an effective regimen.3 We ...

Enzymatic and histological features of muscular disorders associated with primary aldosteronism and glycyrrhizine-induced pseudoaldosteronism were studied. Among 10 patients with primary aldosteronism and 3 patients with pseudoaldosteronism, 5 patients were admitted to our hospital because of muscular weakness. The serum potassium (K) level was 1.86 +/- 0.21 mEq/l in a myopathy group on admissi...