Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a case of Schwartz-Jampel syndrome in a 2-year-9-month-old Taiwanese girl and her clinical response to treatment. She had a history of generalized muscle stiffness and hypertrophy since birth. Clinical and electromyographic myotonia were noted. Other clinical features included short stature, unusual facial appearance, ophthalmoplegia, elbow joint contractures, and developmental hip dysplasia. Muscle stiffness and myotonia improved after infusion of lidocaine. She then received oral mexiletine and the symptoms significantly improved.
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PMID:Schwartz-Jampel syndrome: report of one case. 1223 12

PURPOSE Stiff skin syndrome (SSS; MIM#184900) is a rare autosomal dominantly inherited Mendelian disorder characterised by thickened and stone-hard indurations of the skin, mild hypertrichosis, and limitation of joint mobility with flexion contractures. It is autosomal dominant with high penetrance and results from mutations in the fibrillin 1 (FBN1; MIM*134797) gene. Here we present the associated ocular phenotype in a two generation nonconsanguineous Northern Irish family.METHODS The affected patients underwent complete ophthalmic and orthoptic assessment and genetic testing.RESULTS All three patients had ophthalmoplegia of varying degrees. Direct sequencing of the FBN1 gene detected a heterozygous pathogenic mutation (c.4710G>C; p.Trp1570Cys) in all affected patients.CONCLUSIONS This is the first report of ophthalmoplegia in association with SSS.
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PMID:The ocular phenotype of stiff-skin syndrome. 2647 Nov 16