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)

Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV (Finnish type, Meretoja's syndrome, FAP-IV) has not been reported in Japan to date. In this study we report on 7 cases in a Japanese family which we recently examined. The proband, a 64-year-old man, suffering from itching in his limbs, impaired lip movement and dysarthria, consulted the Department of Neurology, University of Tokyo. Neurological examinations revealed bilateral facial, glossopharyngeal, vagal and hypoglossal nerve palsies, and also impaired distal vibratory perception. Immunohistological and biochemical studies confirmed the diagnosis of FAP-IV. Ophthalmological examinations showed his vision was 1.2 with fine lattice corneal dystrophy in both eyes. The lattice dystrophy was randomly scattered with short glassy lines. Corneal sensation was normal and there was no evidence of recurrent corneal erosion. Six family members with similar lattice corneal dystrophies also were suspected to be affected neurologically by FAP-IV. The family pedigree suggested an autosomal dominant trait of inheritance.
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PMID:Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV. 814 87

Lattice corneal dystrophy type II associated with familial amyloid polyneuropathy type IV (Finish type, FAP-IV) has not yet been reported in Japan. We report 7 cases in a Japanese family. The proband, a 64-year-old man, suffering from itching in his limbs, impaired lip movement, and dysarthria, consulted the Department of Neurology, University of Tokyo. Neurological examination revealed bilateral facial, glossopharyngeal, vagal, and hypoglossal nerve palsy, and impaired distal vibratory perception. His vision was 1.2 and he had fine lattice corneal dystrophy in both eyes. Short glassy lines were randomly scattered in the lattice dystrophy. Corneal sensation was normal and there was no evidence of recurrent corneal erosion. Immunohistological and biochemical studies confirmed the diagnosis of FAP-IV. Six siblings were neurologically suspected to be FAP-IV patients with similar lattice corneal dystrophy. The family pedigree suggested an autosomal dominant trait of inheritance.
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PMID:[Lattice corneal dystrophy type II with familial amyloid polyneuropathy type IV]. 828 56