Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe painful subcutaneous lipomatosis in four members of a two-generation family. Lipomas appeared in adulthood, were circumscribed, painful on touch and mainly localized to the trunk and proximal parts of the extremities. The disorder was associated with dysarthria, visual pursuit defect and progressive dystonia. MRI showed bilateral increasing cystic lesions in the basal parts of the putamen. No other abnormalities were detected. The lesions corresponded well with the clinical presentation in the patients. Investigation for mitochondrial disease with muscle biopsy and mitochondrial DNA gave normal results. No consistent biochemical changes were found. The disorder in this family was considered to differ from MERRF with lipomatous lesions and multiple symmetric lipomatosis but compatible with a Dercum disease variant.
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PMID:Dysarthria, progressive parkinsonian features and symmetric necrosis of putamen in a family with painful lipomas (Dercum disease variant). 1207 86

Benign symmetric lipomatosis (Madelung disease) is a rare disorder of unknown etiology characterized by diffuse growth of unencapsulated lipomas predominantly in the head, neck and shoulder region. Involvement of the tongue has been previously described in only five cases. A 49-year-old man with alcoholic liver cirrhosis presented with an 11-year history of benign symmetric lipomatosis complaining of increasing dysphagia, dysarthria and hoarseness. Clinical intraoral examination revealed asymmetric, globular, firm, circumscribed masses on both borders of the tongue. During surgery, the masses seemed encapsulated from surrounding muscles and could easily be extirpated. However, "satellite fat cells" became obvious, which might give rise to the development of new lipomas.
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PMID:Encapsulated lipomas of the tongue in benign symmetric lipomatosis. 1919 64