Over the past decade there have been major advances in defining the genetic basis of the majority of congenital myopathy subtypes. However the relationship between each congenital myopathy, defined on histological grounds, and the genetic cause is complex. Many of the congenital myopathies are due to mutations in more than one gene, and mutations in the same gene can cause different muscle pathologies. The International Standard of Care Committee for Congenital Myopathies performed a literature review and consulted a group of experts in the field to develop a summary of (1) the key features common to all forms of congenital myopathy and (2) the specific features that help to discriminate between the different genetic subtypes. The consensus statement was refined by two rounds of on-line survey, and a three-day workshop. This consensus statement provides guidelines to the physician assessing the infant or child with hypotonia and weakness. We summarise the clinical features that are most suggestive of a congenital myopathy, the major differential diagnoses and the features on clinical examination, investigations, muscle pathology and muscle imaging that are suggestive of a specific genetic diagnosis to assist in prioritisation of genetic testing of known genes. As next generation sequencing becomes increasingly used as a diagnostic tool in clinical practise, these guidelines will assist in determining which sequence variations are likely to be pathogenic.

Electrical injury is a relatively infrequent but potentially devastating form of multisystem injury with high morbidity and mortality. Most electrical injuries in adults occur in the work-place, whereas children are exposed primarily at home. In nature, electrical injury occurs due to lightning, which also carries the highest mortality. The severity of the injury depends on the intensity of the electrical current (determined by the voltage of the source and the resistance of the victim), the pathway it follows through the victim's body, and the duration of the contact with the source of the current. Immediate death may occur either from current-induced ventricular fibrillation or asystole or from respiratory arrest secondary to paralysis of the central respiratory control system or due to paralysis of the respiratory muscles. Presence of severe burns (common in high-voltage electrical injury), myocardial necrosis, the level of central nervous system injury, and the secondary multiple system organ failure determine the subsequent morbidity and long-term prognosis. There is no specific therapy for electrical injury, and the management is symptomatic. Although advances in the intensive care unit, and especially in burn care, have improved the outcome, prevention remains the best way to minimize the prevalence and severity of electrical injury.

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In 2001, the Muscular Dystrophy Community Assistance, Research and Education Amendments (MD-CARE Act) was enacted, which directed federal agencies to coordinate the development of treatments and cures for muscular dystrophy. As part of the mandate, the Centers for Disease Control and Prevention (CDC) initiated surveillance and educational activities, which included supporting development of care considerations for Duchenne muscular dystrophy (DMD) utilizing the RAND/UCLA Appropriateness Method (RAM). This document represents the consensus recommendations of the project's 10-member Respiratory Panel and includes advice on necessary equipment, procedures and diagnostics; and a structured approach to the assessment and management of the respiratory complications of DMD via assessment of symptoms of hypoventilation and identification of specific thresholds of forced vital capacity, peak cough flow and maximum expiratory pressure. The document includes a set of Figures adaptable as "pocket guides" to aid clinicians. This article is an expansion of the respiratory component of the multi-specialty article originally appearing in Lancet Neurology, comprising respiratory recommendations from the CDC Care Considerations project.

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