Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Williams-Beuren syndrome (WBS) is a disorder of unknown aetiology. The classical features of the syndrome include a typical ('elfin') facies, mental retardation and heart defects. Myopathy has not so far been part of the spectrum of WBS. We studied six patients with WBS aged 3-25 years, five of whom showed clinical and morphological evidence of myopathy. The clinical manifestations of myopathy included hypotonia in infancy, walking delay, joint contractures, scoliosis, and increased exhaustion on exertion. These symptoms were present in variable expression but part of a typical postural pattern. Examination of muscle biopsies showed lipid storage in four patients and increased variability of fibre size in three. In one patient a muscle biopsy gave normal results. Biochemical investigation in four patients with morphological evidence of lipid storage in muscle revealed muscle carnitine deficiency in three. In addition, enzyme activities of fatty acid beta-oxidation were low in one of two specimens tested. It is concluded that a clinically relevant myopathy is part of the multi-system manifestation of WBS and a clinical trial of carnitine supplementation is justified.
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PMID:Myopathy in Williams-Beuren syndrome. 191 7

Patients with chronic widespread pain often present with musculo-skeletal pain and therefore often initially contact an orthopaedist. For these patients fibromyalgia syndrome is an important differential diagnosis. Recommendations for the diagnosis of and therapy for fibromyalgia syndrome based on the recent German S3 guidelines for fibromyalgia syndrome (AWMF registration number 041/004) are outlined in this paper. These guidelines were developed under the coordination of the German interdisciplinary association for pain management DIVS and two patient support groups. The history of a typical symptom complex and the exclusion of relevant somatic causes for the pain are epecially relevant for the diagnosis of fibromyalgia syndrome. Besides the exclusion of relevant orthopaedic causes for the pain, psycho-social aspects should always be evaluated. According to the modified ACR criteria 2010, chronic widespread pain and accompanying sleep disturbances and a physical as well as mental state of exhaustion lead to the diagnosis of fibromyalgia syndrome. It is not mandatory to check tender points (ACR 1990 criteria). A graduated treatment approach depending on the severity level of the fibromyalgia syndrome in the individual patient is recommended. Active treatment options (aerobic training, meditative movement therapies, strength training) should be preferred to any drug therapy in the long-term treatment of fibromyalgia. If indicated, amitryptiline or duloxetine may be used to treat accompanying depressive or generalised anxiety disorder. Muscle relaxant medication, non-steroidal anti-inflammatory drugs and strong opioids should be avoided. The multimodal pain therapy considering all psycho-social aspects is a promising treatment option for fibromyalgia syndrome of moderate to high severity.
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PMID:[Fibromyalgia syndrome - updated s3 guidelines]. 2434 15