Dataset Information

Paroxysmal Dyskinesia in Norwich Terrier Dogs.

ABSTRACT: Background:Episodic muscular hypertonicity in Norwich terrier dogs was first reported in a brief communication in 1984. Since then, the condition has remained poorly characterized. Objectives:The aims of this study were to characterize the phenomenology, clinical course, and family history of paroxysmal dyskinesia in the Norwich terrier and to estimate its prevalence in the United Kingdom. Methods:The owners of Norwich terrier dogs born since January 1, 2000 were invited to complete a specifically designed questionnaire aimed at identifying affected and unaffected dogs and investigating the clinical characteristics of this paroxysmal dyskinesia. Pedigrees were collected and reviewed. Results:The questionnaire was returned for 198 Norwich terrier dogs. Of these, 26 (13%) were classified as affected by paroxysmal dyskinesia after revision of the questionnaires and after obtaining videos of the episodes, veterinary medical records, and telephone interviews with the owners. All dogs were neurologically normal between episodes. No significant abnormalities were detected on diagnostic investigations. Mean age at the first episode was 3 years. The episodes were characterized by sustained muscular hypertonicity in the pelvic limbs, lumbar region, and thoracic limbs, impairing posture and locomotion without loss of consciousness. Episode frequency varied both between and within individuals. Stress, anxiety, excitement, and variation in daily routine were recognized as episode triggers in 13 dogs. Episode duration generally was from 2 to 5 minutes (range, from < 2 to 30 minutes). The majority of affected dogs were related. Conclusions:Paroxysmal dyskinesia segregates in an extended pedigree of Norwich terrier dogs and thus is potentially an inherited disorder in this breed.

SUBMITTER: De Risio L

PROVIDER: S-EPMC6353418 | biostudies-literature | 2016 Nov-Dec

REPOSITORIES: biostudies-literature

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Paroxysmal Dyskinesia in Norwich Terrier Dogs.

De Risio Luisa L Forman Oliver P OP Mellersh Cathryn S CS Freeman Julia J

Movement disorders clinical practice 20160519 6

<h4>Background</h4>Episodic muscular hypertonicity in Norwich terrier dogs was first reported in a brief communication in 1984. Since then, the condition has remained poorly characterized.<h4>Objectives</h4>The aims of this study were to characterize the phenomenology, clinical course, and family history of paroxysmal dyskinesia in the Norwich terrier and to estimate its prevalence in the United Kingdom.<h4>Methods</h4>The owners of Norwich terrier dogs born since January 1, 2000 were invited to ...[more]

PMID: 30838250

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Project description:BackgroundParoxysmal kinesigenic dyskinesia (PKD) and epilepsy share common pathogenic mechanisms but their pathophysiological connections remain unknown. Our study reports an individual with both disorders as a consequence of pseudohypoparathyroidism (PHP). This observation suggests potential shared pathophysiological mechanisms between PKD and epilepsy.MethodsWe report the case of a 15-year-old male with pre-diagnosed PKD and symptomatic epilepsy. We recorded the symptoms and carried out comprehensive biochemical, genetic, imaging, and EEG analyses to examine the characteristics and potentially shared etiology of these conditions.ResultsIn this case, the patient's PKD and symptomatic epilepsy were secondary to pseudohypoparathyroidism (PHP). The patient had a seven-year history of intermittent, involuntary paroxysmal episodic movements, and a six-year history of a loss of consciousness with convulsions. The electroencephalography results showed that the paroxysmal low and medium amplitude slow waves, isolated sharp waves, and sharp slow-wave release occurred in the right prefrontal temporal cortex. Serum analysis indicated a calcium concentration of 1.91 mmol/L, a phosphorus concentration of 2.68 mmol/L, an alkaline phosphatase concentration of 114 IU/L, and a parathyroid hormone concentration of 109 pg/ml. Computerized tomography and magnetic resonance imaging results showed multiple calcifications in the bilateral frontal and parietal lobe cortex, bilateral thalamus, basal ganglia, and centrum semiovale. Furthermore, GNAS methylation abnormalities were discovered during methylation testing. There was no recurrence of abnormal movements or epileptic seizures, and calcium concentrations returned to healthy levels, following the pharmacological treatment of PHP.ConclusionIn this case, PKD and symptomatic epilepsy were caused by PHP. This report underscores the importance of looking for biochemical abnormalities in PKD and symptomatic epilepsy patients. We suggest that all such intractable epilepsy seizure patients should be screened for PHP.

Dataset Information

Paroxysmal Dyskinesia in Norwich Terrier Dogs.

Publications

Paroxysmal Dyskinesia in Norwich Terrier Dogs.

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