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

A 20-year-old Japanese woman was diagnosed as suffering from adult type A neuronal ceroid lipofuscinosis (NCL) by rectal biopsy in the first year of manifestation. Her sister was in good health, and her parents were non-consanguineous. She had graduated from a public high school and then went to a typist school, when she developed action myoclonus and dystonia. On admission, she was of short stature and her clinical features included high arched palate, cataracta, and accentuated deep tendon reflexes. Her IQ was 50. Visual failure was not observed. Brain MRI showed no abnormalities. Together with myoclonus and the abnormalities in EEG which included poly spike and wave complex, progressive myoclonus epilepsy was considered as differential diagnoses. Ultrastructurally, lipopigments of granular matrix and curvilinear profile were found in Schwann cells in rectal biopsy. Adult NCL, known as Kufs' disease, is classified into two clinical types; progressive myoclonus epilepsy (type A) and dementia with motor disturbance (type B). Adult NCL is very rare in Japan, and this is the first report of adult NCL type A in Japan.
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PMID:[A case of adult neuronal ceroid lipofuscinosis type A]. 1039 79