The neuromuscular system may be affected by disorders of the central nervous system as well as other disorders affecting motoneurons, axons, neuromuscular transmission, the sarcolemmal membrane, the contractile elements and other components of the muscle fibers themselves. One or a combination of these possibilities can present in patients in the critical care unit. This paper reviews various q...

INTRODUCTION Clinical presentation of syringomyelia can mimic a variety of neuromuscular disorders. A misdiagnosis can result in progressive pressure on the spinal cord, causing the development of severe irreversible neurologic deficits. CASE PRESENTATION We report the very unusual case of a 50-year-old Latino man who developed severe distal muscle atrophy and bulbar dysfunction as a result o...

INTRODUCTION Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. CASE PRESENTATION We present the case of a 45-year-old Turkish man with Steinert's syndrome,...

The Lambert-Eaton myasthenic syndrome is a neuromuscular disorder characterised by defective neurotransmitter release at autonomic neurones and presynaptic terminals of the neuromuscular junction. It is caused by an IgG autoantibody formed against especially the P/Q type of voltagegated calcium channels (VGCC) which is an essential component of the mechanism of neurotransmitter release. Many pa...

INTRODUCTION Neuromuscular disorders, predominantly critical illness myopathy (CIM) and critical illness polyneuropathy (CIP) occur in approximately one-third of patients in intensive care units. The aim of this study was to review the important role of electrophysiology in this setting. RESULTS In CIM, sarcolemmal inexcitability causes low amplitude compound muscle action potentials (CMAPs) ...

OBJECTIVE To assess the prevalence of severe fatigue and its relation to functional impairment in daily life in patients with relatively common types of neuromuscular disorders. METHODS 598 patients with a neuromuscular disease were studied (139 with facioscapulohumeral dystrophy, 322 with adult onset myotonic dystrophy, and 137 with hereditary motor and sensory neuropathy type I). Fatigue se...

In this study, 105 healthy children (45 to 156 months old, 57 girls) were examined using ultrasound (US) imaging to obtain reference values of muscle dimensional and aspect parameters. We measured biceps and quadriceps sizes and subcutaneous tissue thickness. To quantify muscle aspect, we calculated muscle density, inhomogeneity and white-area index by digital image analysis. Age-, weight- and ...

This article reviews the use of electrodiagnostic testing in disorders of neuromuscular transmission and discusses the differences between various presynaptic and postsynaptic disorders. Attention is paid to quality control issues that influence the sensitivity of repetitive nerve stimulation and single fiber electromyography. Electrodiagnostic testing, when used as an extension of the clinicia...

Telethonin is a 19-kDa sarcomeric protein, localized to the Z-disc of skeletal and cardiac muscles. Mutations in the telethonin gene cause limb-girdle muscular dystrophy type 2G (LGMD2G). We investigated the sarcomeric integrity of muscle fibers in LGMD2G patients, through double immunofluorescence analysis for telethonin with three sarcomeric proteins: titin, alpha-actinin-2, and myotilin and ...