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Autosomal recessive cerebellar hypoplasia

✍ Scribed by Harris, Christopher M.; Kriss, Anthony; Russell-Eggitt, Isabelle

Book ID: 122850670
Publisher: Elsevier Science
Year: 1993
Tongue: English
Weight: 49 KB
Volume: 9
Category: Article
ISSN: 0887-8994
DOI: 10.1016/0887-8994(93)90096-U

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Nonprogressive cerebellar hypoplasia was first described by Norman [1940]. It is characterized by nonprogressive ataxia, delay in language acquisition, persistent dysarthria, strabismus, hypotonia, and mental retardation. Neuroimaging demonstrates cerebellar atrophy affecting the vermis and/or hemis