Spectrum of Movement Disorders in 18p Deletion Syndrome

Abstract

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.

Late Diagnosis of 18p Syndrome with Movement Disorders by Whole Exome Sequencing Read‐Depth Based Algorithm

“…2 Moreover, an increasing number of patients with movement disorders (MDs) have been recently reported. 3 We would like to contribute to the description of the phenotype with a patient who suffers from this syndrome and whose story emphasizes the importance of genetical analysis in adult patients with intellectual disability.…”

Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy

“…The clinical abnormalities include short stature, intellectual disability, facial dysmorphism (microcephaly, ptosis, epicanthus, low nasal bridge, protruding ears, long philtrum, and thin lips), and clinodactyly of the fifth finger. 4 However, skeletal or brain malformations, mostly of the holoprosencephaly, have also been reported. 5 6 7 In most patients (>75%), deletions are seen de novo.…”

The Spectrum of Movement Disorders in 18‐p Deletion Syndrome

“…As Crosiers and colleagues pointed out, several genes on the short arm of chromosome 18 could potentially be implicated in the pathogenesis of abnormal movements in this syndrome. The GNAL gene is located on the short arm of chromosome 18p11, and the absence of GNAL probably contributes to dystonia in patients with the 18p deletion syndrome .…”

“…We read with interest the article by Crosiers and colleagues about the spectrum of movement disorders in 18‐p deletion syndrome, and we would like to contribute with 2 more patients who suffered this syndrome. Both had dystonia, mostly affecting the cervical region, and one also had jerky movements in her arms and neck.…”