Tremor and Dystonia in Jacob's Syndrome (47,XYY).
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ABSTRACT:
SUBMITTER: Davis JL
PROVIDER: S-EPMC6962674 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Publications
Tremor and Dystonia in Jacob's Syndrome (47,XYY).
Davis Jennie L JL Kurek Julie A JA Morgan John C JC Sethi Kapil D KD
Movement disorders clinical practice 20191217 1
Similar Datasets
Project description:To contrast the behavioral and social phenotypes including a screen for autistic behaviors in boys with 47,XYY syndrome (XYY) or 47,XXY Klinefelter syndrome (KS) and controls and investigate the effect of prenatal diagnosis on the phenotype.Patients included 26 boys with 47,XYY, 82 boys with KS, and 50 control boys (ages 4-15 years). Participants and parents completed a physical examination, behavioral questionnaires, and intellectual assessments.Most boys with XYY or KS had Child Behavior Checklist parental ratings within the normal range. On the Child Behavior Checklist, mean problem behaviors t scores were higher in the XYY versus KS groups for the Problem Behavior, Externalizing, Withdrawn, Thought Problems, and Attention Problems subscales. On the Conners' Parent Rating Scale-Revised, the XYY versus KS group had increased frequency of hyperactive/impulsive symptoms (P < .006). In addition, 50% and 12% of the XYY and KS groups, respectively, had scores >15 for autism screening from the Social Communication Questionnaire. For the boys with KS, prenatal diagnosis was associated with fewer problem behaviors.A subset of the XYY and KS groups had behavioral difficulties that were more severe in the XYY group. These findings could guide clinical practice and inform patients and parents. Boys diagnosed with XYY or KS should receive a comprehensive psychoeducational evaluation and be screened for learning disabilities, attention-deficit/hyperactivity disorder, and autism spectrum disorders.
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Project description:The 47,XYY syndrome, or Jacobs syndrome, is a chromosomal disorder affecting approximately one in 1000 male births. While often asymptomatic or mildly expressed, it is associated with various physical, cognitive and behavioral features. Early studies erroneously linked the condition to aggressive behavior and elevated testosterone levels, largely based on incarcerated populations. Recent evidence contradicts this, showing testosterone levels in 47,XYY individuals are typically normal or lower than in 46,XY males. This systematic review and meta-analysis of 362 patients examine hormonal, testicular and fertility outcomes in 47,XYY syndrome. Findings reveal significantly lower testosterone levels and elevated luteinizing hormone and follicle-stimulating hormone, indicating impaired gonadal function. While testicular volumes are often normal, many patients exhibit reduced size and a notable proportion experience oligozoospermia or azoospermia. These outcomes highlight the need for counseling regarding infertility and hormonal imbalances. This review dispels the myth of 47,XYY as a 'super-male syndrome', emphasizing the complexity of hormonal, testicular and psychological factors. It underscores the importance of early diagnosis and a multidisciplinary approach to address endocrine and reproductive health. Regular monitoring for hypogonadism and consideration of assisted reproductive technologies are recommended to support affected individuals.
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Project description:BACKGROUND:47,XYY is a chromosomal abnormality syndrome that is typically observed in patients with a male phenotype. Few patients with XYY syndrome will have infertility. We here report a case of 46,XY/47,XYY syndrome diagnosed in a patient with a female phenotype. CASE PRESENTATION:A 15-year-old patient with a female phenotype visited our hospital owing to a chief complaint of short stature as of the age of 6?years. She was diagnosed with dwarf syndrome at the age of 10, but no change was noted after 2?months of growth hormone treatment. The patient's height was 136?cm and the weight was 29?kg, both of which were below the third percentile for her age/gender. In addition to short stature, the 4th and 5th metacarpals were short and there was no significant sex development. Karyotype analysis showed 47,XYY, and chromosomal microarray examination showed a chimera of 46,XY/47,XYY. CONCLUSION:This is an extremely rare case of 47,XYY abnormality in a patient with a female phenotype, with only one such known case reported previously. Since the cause is unknown, and symptoms of this syndrome are highly atypical and variable in childhood, clinicians should be aware of this possibility to avoid misdiagnosis and offer counseling and hormone therapy as needed to patients and their parents to improve their quality of life.
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Project description:BACKGROUND:We aimed to characterize the clinical and electrophysiological features of patients with slow orthostatic tremor. CASE REPORT:The clinical and neurophysiological data of patients referred for lower limb tremor on standing were reviewed. Patients with symptomatic or primary orthostatic tremor were excluded. Eight patients were identified with idiopathic slow 4-8 Hz orthostatic tremor, which was associated with tremor and dystonia in cervical and upper limb musculature. Coherence analysis in two patients showed findings different to those seen in primary orthostatic tremor. DISCUSSION:Slow orthostatic tremor may be associated with dystonia and dystonic tremor.
| S-EPMC4749092 | biostudies-literature
Project description:BackgroundAlthough head tremor (HT) and pain are prevalent in cervical dystonia (CD), their joint relationship to phenotypic features of focal dystonia remains unclear.ObjectivesWe examined how severity of HT and pain are associated with age of CD onset and duration, and whether HT subtypes ("jerky" or "regular") exhibit distinct relationships between severity of HT and pain.MethodsThe severity of HT and pain were assessed with the Toronto Western Spasmodic Torticollis Rating Scale in retrospective review of 188 CD patients recruited through the Dystonia Coalition.ResultsHT severity was associated with longer CD duration (p < 0.0005), whereas pain severity was associated with younger age at onset (p = 0.043). HT severity and pain severity were not correlated for jerky HT (p = 0.996), but positively correlated for regular HT (p = 0.01).ConclusionsThe distinct associations of HT and pain with age at onset, disease duration, and HT subtype further characterize the heterogeneity of CD's clinical presentation and suggest similarly heterogeneous underlying mechanisms.
| S-EPMC8076053 | biostudies-literature
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| S-EPMC6384190 | biostudies-literature
Project description:ObjectiveOcular palatal tremor typically develops after a breach in the Guillian-Mollaret triangle. We herein describe a variant of this syndrome in which dystonia is also present, hence called, here, ocular palatal tremor plus dystonia.MethodsWe assessed eye-head movements and dystonia in six patients with ocular palatal plus dystonia.ResultsAmong six patients with ocular palatal tremor two had focal dystonia, three had multifocal dystonia, and one had generalized dystonia. The dystonia affected the upper extremities and neck in four patients, the lower extremities in three and the face in two. Three out of four cervical dystonia patients had head tremor. Two patients also had speech involvement. Lack of correlation between eye and head oscillations suggested that head oscillations were not compensatory or secondary to the eye oscillations and vice versa.ConclusionsWe describe a novel variant of ocular palatal tremor with dystonia. We speculate that in such variant the dystonia is possibly could be a result of abnormal cerebellar outflow in patients with a breach in Guillain-Mollaret triangle.
| S-EPMC4753074 | biostudies-literature