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)

A syndrome of dysarthria, clumsiness and abnormal ocular movements are described in a man and his 3 children. His father, who died when our patient was born, also had the same speech abnormality. Our patient also had multiple painful lipomas suggesting a probable diagnosis of adipositas dolorosa Dercum. Although he looked muscular he complained of muscular weakness and fatigue. Oral treatment with a local anesthetic, mexiletin, inhibited the pain in the lipomas. Analysis of the speech disorder in our patient and his children revealed disturbances in the coordination of jaws, larynx and tongue with a poor control of pitch and volume and impaired intelligibility. The poor fine coordination of hands, clumsiness when walking, dysarthria and disturbance of eye-movements could be due to a familial malformation in the pons or cerebellum. Computer tomography and X-ray of head were normal but the grooves on the surface of the cerebellum were more marked than usual.
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PMID:A syndrome with painful lipomas, familial dysarthria, abnormal eye-movements and clumsiness. 359 58

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