Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Kearns-Sayre Syndrome is form of rare mitochondrial cytopathy, first described by Thomas P. Kearns and George Pomeroy Sayre in 1958 and is characterized by progressive external opthalmoplegia, cardiac conduction block, pigmentary retinal degeneration, variable number of red ragged fibers on muscle biopsy. It presents before the child reaches the age of twenty. Kearns-Sayre syndrome may affect many organ systems and additional features may include myopathy, dystonia, bulbar symptoms in the form of dysarthria and nasal regurgitation and bilateral facial weakness. Endocrine abnormalities (e.g., diabetes, growth retardation/short stature, and hypoparathyroidism), bilateral sensorineural deafness, dementia, cataracts, and proximal renal tubular acidosis, skeletal muscle weakness (proximal more than distal) and exercise intolerance are additional features. Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for Kearns-Sayre syndrome (KSS). Management is supportive vigilance for detection of associated problems. In the future, potential treatment in patients with Kearns-Sayre syndrome may attempt to inhibit mutant mtDNA replication or encourage replication of wild-type mtDNA.
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PMID:Kearns Sayre Syndrome--case report with review of literature. 2385 60

Wilson's disease (WD) has varied phenotypic presentations. Here we report the case of a 16-year-old boy who presented with a history of multiple pathological fractures, severe joint deformities, hepatic dysfunction, cognitive decline and limb dystonia. On examination, the patient had pinched out facies, pallor and leukonychia totalis. Bilateral Kayser Fleischer (KF) ring was present. Musculoskeletal examination revealed pectus carinatum, bilateral genu valgus and gun-stock deformity of the left elbow joint. Splenomegaly and moderate ascites were present. Neurological examination revealed mild rigidity and intermittent episodes of dystonic posturing of all four limbs. On this basis a diagnosis of WD with dystonia with cirrhosis of liver with portal hypertension with renal tubular acidosis with renal rickets was thought likely. Investigations confirmed the diagnosis. The patient was started on treatment but he did not improve. He suffered aspiration pneumonia during his hospital stay and succumbed to the illness.
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PMID:Pathological fractures as an initial presentation of Wilson's disease. 2357 56