Premium
Spectrum of Movement Disorders in 18p Deletion Syndrome
Author(s) -
Crosiers David,
Blaumeiser Bettina,
Van Goethem Gert
Publication year - 2019
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.12707
Subject(s) - movement disorders , spectrum (functional analysis) , physical medicine and rehabilitation , medicine , psychology , physics , disease , quantum mechanics
Background Deletion of the short arm of chromosome 18 leads to 18p deletion syndrome. Clinical features include short stature, facial dysmorphism, mental retardation, and several types of movement disorders. Methods The 18p deletion syndrome in our patient was diagnosed using karyotype analysis and confirmed by genome‐wide single‐nucleotide polymorphism array. We have performed a literature search and summarized all previously reported patients with 18p deletion syndrome and movement disorders. Results We present a 41‐year‐old male patient with childhood‐onset generalized dystonia. Dystonia is the most prevalent movement disorder in 18p deletion patients, with onset ranging from childhood to adulthood. Chorea, myoclonus, tremor, tics, and ataxia have been reported in a minority of these patients. Conclusion Dystonia is commonly observed in 18p deletion syndrome. The variable size of the deletion on 18p is probably responsible for the broad phenotypic variability of movement disorders in this syndrome.