REGISTRIES AND CARE OF NEUROMUSCULAR DISORDERS

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The diagnosis and follow up of the hyperCKemia in almost all the cases remains a challenge because sometimes they need very invasive studies to finally get into it. To describe patients with hyperckemia and their difference diagnosis. Patients with CK level 1.5 times (at least 2 measurements). We follow up mean to two years. Patients with asymptomatics and oligosymptomatics clinical features. We excluded non neuromuscular disorders (thyroid, celiac disease and pharmacological or drugs). We studied all the patients with muscular dystrophy, electromyography, intermediate metabolism, acid alpha glucosidase, genetics test for McArdle desorder, muscle MRI, muscle biopsy and NGS panel.

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