Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The evaluation and management of childhood pain syndromes of neuromuscular origin have distinct challenges, as the patterns of disease presentation and the ability of a child to describe symptoms may differ from that of an adult. Advances in scientific and clinical knowledge are leading to significant progress in the care of affected children. The genetic origins of Fabry disease and the inherited form of erythromelalgia are better understood. The increasing interest in neuroimmunology among pediatric neurologists has led to more sophisticated diagnostic and therapeutic approaches. Treatment protocols for complex regional pain syndrome have become more standardized. In addition, investigations continue into potential new interventions for metabolic muscle diseases such as McArdle disease and carnitine palmitoyl transferase deficiency type II. In the years to come, children with pain of neuromuscular origin will have access to more precise diagnostic tools and novel therapies that would alleviate this particularly distressing category of disease.
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PMID:Neuropathic and Myopathic Pain. 2798 32

Small fiber neuropathy (SFN) is a prevalent neurologic syndrome. Testing methods have emerged in recent years to better diagnose it, including autonomic tests and skin punch biopsy. SFN can present in a non-length-dependent fashion and can be mistaken for syndromes such as fibromyalgia and complex regional pain syndrome. SFN is caused by a variety of metabolic, infectious, genetic, and inflammatory diseases. Recently treatments have emerged for TTR amyloid neuropathy and Fabry disease, and novel biomarkers have been found both in genetic and inflammatory SFN syndromes. Ongoing trials attempt to establish the efficacy of intravenous immunoglobulin in inflammatory SFN syndromes.
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PMID:Advances in the Management of Small Fiber Neuropathy. 3322 78