Cardiac involvement in limb girdle muscular dystrophy has considered to be rare. This is the first report showing the electron microscopic findings of dilated cardiomyopathy (DCM) accompanied with limb girdle muscular dystrophy. The findings described in this report indicate that limb girdle muscular dystrophy may be yet another cause of DCM.

Facioscapulohumeral muscular dystrophy (FSHD) is the one of most common types dystrophy. We present a retrospective case description patient with late-onset, atypical FSHD and provide an overview clinical history, physical exam findings, diagnosis treatment FSHD. A 71-year old male subjective facial weakness dysarthria presented initially without findings paresis normal diagnostic lab work. Ove...

The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alt...

Findings from two patients with a reticular tapetoretinal dystrophy strongly suggested advanced stages of Sjögren's reticular dystrophy. These observations emphasize that, although initially a benign disease, advanced stages of Sjörgren's dystrophy may eventually manifest diffuse photoreceptor and retinal pigment epithelial disease.

A patient with Fuch's corneal dystrophy, sensorineural hearing loss, diabetes, cardiac conduction defects, ataxia, and hyperreflexia is described. Analysis of lymphocyte mitochondrial DNA showed missense mutations usually associated with Leber's hereditary optic neuropathy. The occurrence of Fuch's dystrophy in this patient and the biology of corneal endothelial cells suggest that mitochondrial...

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy associated with cardiac implications such as cardiomyopathy and arrhythmias leading to sudden death. We describe the anesthetic management of a patient with Emery-Dreifuss muscular dystrophy who presented for orthopaedic surgery and discuss the disorder and its potential anaesthetic implications.

Previous studies of patients with myotonic dystrophy have demonstrated hyperinsulinism after glucose loading. This hyperinsulinism has been attributed by some investigators to tissue insulin resistance. We have directly studied insulin sensitivity of forearm muscle in patients having such hyperinsulinism. The effect of an intrabrachial arterial insulin infusion (100 mu U/kg per min) on glucose ...

Mice with genetic muscular dystrophy were treated with intraperitoneal injections of the proteinase inhibitor leupeptin, beginning before the onset of weakness. A significant number of the treated animals failed to develop histological evidence of dystrophy, compared with controls. Leupeptin treatment prevented (or delayed) the onset of muscular dystrophy in this experiment.