Drug induced paroxysmal movement disorders

Deep brain stimulation (DBS) of the globus pallidus internus (entopeduncular nucleus, EPN, in rodents) is important for the treatment of drug-refractory dystonia. The pathophysiology of this movement disorder and the mechanisms of DBS are largely unknown. Insights into the mechanisms of DBS in animal models of dystonia can be helpful for optimization of DBS and add-on therapeutics. We recently found that short-term EPN-DBS with 130 Hz (50 µA, 60 µs) for 3 h improved dystonia in dtsz hamsters and reduced spontaneous excitatory cortico-striatal activity in brain slices of this model, indicating fast effects on synaptic plasticity...

Paroxysmal dyskinesia is a clinically and etiologically polymorphic group of diseases, the main clinical manifestation of which is transient attacks of extrapyramidal movements, with different conditions of occurrence. Paroxysmal kinesigenic dyskinesia belongs to the group of primary dyskinesias, which also includes paroxysmal non-kinesigenic dyskinesia and exercise-induced paroxysmal dyskinesia. The most common cause of paroxysmal kinesiogenic dyskinesia is mutations in the PRRT2 gene; in cases of non-kinesiogenic dyskinesia, a mutation in the MR1 gene is detected...

BACKGROUND: Mutations in PRRT2 and 16p11.2 microdeletion including PRRT2 have been identified as the pathogenic cause of paroxysmal kinesigenic dyskinesia (PKD). OBJECTIVE: The objective was to investigate the clinical and genetic features of PKD and to analyze the genotype-phenotype correlation. METHODS: We recruited PKD patients, recorded clinical manifestations, and performed PRRT2 screening in 150 PKD patients by unified PKD registration forms...

Background: Paroxysmal kinesigenic dyskinesia (PKD) is a movement disorder characterized by transient dyskinetic movements, including dystonia, chorea, or both, triggered by sudden voluntary movements. Carbamazepine and other antiepileptic drugs (AEDs) are widely used in the treatment of PKD, and they provide complete remission in 80-90% of medically treated patients. However, the adverse effects of AEDs include drowsiness and dizziness, which interfere with patients' daily lives. For those with poor compatibility with AEDs, other treatment approaches are warranted...

Paroxysmal kinesigenic dyskinesia (PKD) is a rare condition characterized by abnormal involuntary movements that are precipitated by a sudden movement. PKD is often misdiagnosed with psychogenic movement disorders. Carbamazepine is usually the first choice of medication due to its well-established evidence but could induce Stevens-Johnson syndrome. We report a 21-year-old male patient with PKD referred to our movement disorders clinic after being misdiagnosed with conversion syndrome. PRRT2 gene testing using next-generation sequencing revealed a mutation in c...

Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare disorder with various manifestations. Early diagnosis is crucial because treatment with the ketogenic diet can lead to clinical improvement. Here, we report the cases of two siblings with Glut1 DS and one of them presented with sleep disorder which is a rare and atypical manifestation of Glut1 DS. Patient 1 was a 3.5-year-old boy who presented with paroxysmal loss of tone and weakness of the whole body with unresponsiveness after waking up...

A 5-and-a-half-year old, 9-kg, spayed, female Welsh Terrier presented with a 12 month history of paroxysmal exertion-induced dyskinesia (PED) characterized by recurrent episodes of involuntary hyperkinetic movements, abnormal muscle tone, and contractions triggered by exercise. A single episode occurred within 2 hours after exercise, lasted from 7 to 10 minutes, and resolved without treatment. The owner sought treatment for the dog when the episodes began to last longer (20-30 minutes), and occurred as long as 2...

Background: Paroxysmal dyskinesias (PxD) are a group of heterogeneous disorders characterized by intermittent episodes of involuntary movements. PxD include paroxysmal kinesigenic (PKD), nonkinesigenic (PNK), and exercise-induced (PED) varieties. Objectives: To define the phenotype of primary and secondary PxD forms. Methods: Twenty-two patients with PxD (9 men/13 women) were evaluated in two hospitals in south-west Castilla y Leon, Spain...

BACKGROUND AND PURPOSE: Paroxysmal dyskinesia is a genetically and clinically heterogeneous movement disorder. Recent studies have shown that it exhibits both phenotype and genotype overlap with other paroxysmal disorders as well as clinical heterogeneity. We investigated the clinical and genetic characteristics of paroxysmal dyskinesia in children. METHODS: Fifty-five patients (16 from 14 families and 39 sporadic cases) were enrolled. We classified them into three phenotypes: paroxysmal kinesigenic dyskinesia (PKD), paroxysmal nonkinesigenic dyskinesia (PNKD), and paroxysmal exercise-induced dyskinesia (PED)...

Paroxysmal dyskinesias refer to category of abnormal involuntary movements, such as chorea, dystonia, athetosis, ballism or their various configurations. Depending on the type of seizure, sudden movement, stress, emotions, coffee or alcohol may be the trigger factors. Acute seizures are characterized by short duration and are self-limitated. Patients present correct portray of movements between seizures. Intact consciousness during seizure is the invariable characteristic of all paroxysmal dyskinesias. The intent of this work is to systematize knowledge about paroxysmal dyskinesias...

INTRODUCTION: Limited data exist on epidemiology, clinical presentation and management of acute hyperkinetic movement disorders (AHMD) in paediatric emergency departments (pED). METHODS: We retrospectively analysed a case series of 256 children (aged 2 months to 17 years) presenting with AHMD to the pEDs of six Italian tertiary care hospitals over a 2-year period (January 2012 to December 2013). RESULTS: The most common type of AHMD was tics (44...

Sleep and epilepsy have a close relationship. About 20% of patients suffer seizures only during the night, approximately 40% only during the day and approximately 35% during the day and night. In certain epilepsy syndromes, the occurrence of seizures is strongly related to sleep or awakening. Infantile spasms appear predominately on awakening, and hypsarrhythmia is sometimes visible only in sleep. Children with Panayiotopoulos syndrome or benign epilepsy with centrotemporal spikes (BECTS) have seizures mostly when asleep, and in both syndromes interictal spike waves are markedly accentuated in slow wave sleep...

Paroxysmal dyskinesias are rare, heterogeneous group of disorders characterised by recurrent attacks of involuntary movements. The four classic categories of paroxysmal dyskinesias are kinesigenic, nonkinesigenic, exercise-induced and hypnogenic. There are some patients that do not fit in these four groups of paroxysmal dyskinesia and are termed as "mixed type". We describe a 13-year-old girl who had features of both paroxysmal kinesigenic dyskinesia and paroxysmal nonkinesigenic dyskinesia that was misdiagnosed as refractory epilepsy...

BACKGROUND: Paroxysmal dyskinesia is a rare neurological disorder characterized by paroxysmal movement disorders. Paroxysmal movement disorders include kinesigenic choreoathetosis, nonkinesigenic choreoathetosis or dyskinesia (PNKD), exercise-induced choreoathetosis, and hypnogenic paroxysmal dystonia. There have been some sporadic reports of PNKD occurrences in Chinese Mainland, but none has been reported on familial PNKD. Proband and methods A 32 years old male admitted to the First Affiliated Hospital of Chinese PLA General Hospital, Beijing, China in 2009 with recurrent limb involuntary movements spanning over 30 years was diagnosed with PNKD...

Seizures and epilepsy are a common problem in childhood. Nonepileptic paroxysmal events are conditions that can mimic seizure and frequent in early childhood. Nonepileptic paroxysmal events can be due to physiological or exaggerated physiological responses, parasomnias, movement disorders, behavioral or psychiatric disturbances, or to hemodynamic, respiratory, or gastrointestinal dysfunction. Vitamin B12 deficiency is a treatable cause of failure to thrive and developmental regression, involuntary movements, and anemia...

This study was aimed to analyze the clinical features of paroxysmal kinesigenic dyskinesia (PKD) and extend the understanding of this disease. From August, 2008 to October, 2010, 9 patients were diagnosed with PKD in the Department of Neurology of the First Affiliated Hospital of Zhejiang University, China. The data involving clinical demographic characteristics, somatosensory evoked potentials, results of electromyography, video electroencephalography (EEG), brain magnetic resonance imaging (MRI) and computerized tomography (CT) were collected...

Startle syndromes are paroxysmal and show stimulus sensitivity, placing them in the differential diagnosis of epileptic seizures. Startle syndromes form a heterogeneous group of disorders with three categories: hyperekplexia (HPX), stimulus-induced disorders, and neuropsychiatric syndromes. HPX is characterized by an exaggerated motor startle reflex combined with stiffness and is caused by mutations in different parts of the inhibitory glycine receptor, leading to brainstem pathology. The preserved consciousness distinguishes it from epileptic seizures...

The literature on paediatric acute-onset movement disorders is scattered. In a prospective cohort of 52 children (21 male; age range 2mo-15y), the commonest were chorea, dystonia, tremor, myoclonus, and Parkinsonism in descending order of frequency. In this series of mainly previously well children with cryptogenic acute movement disorders, three groups were recognised: (1) Psychogenic disorders (n = 12), typically >10 years of age, more likely to be female and to have tremor and myoclonus (2) Inflammatory or autoimmune disorders (n = 22), including N-methyl-d-aspartate receptor encephalitis, opsoclonus-myoclonus, Sydenham chorea, systemic lupus erythematosus, acute necrotizing encephalopathy (which may be autosomal dominant), and other encephalitides and (3) Non-inflammatory disorders (n = 18), including drug-induced movement disorder, post-pump chorea, metabolic, e...

Paroxysmal dyskinesias are a rare group of movement disorders affecting both adults and children. Based on the events that precipitate the abnormal movements, they are subdivided into paroxysmal kinesigenic dyskinesia (PKD), precipitated by sudden voluntary movements; paroxysmal nonkinesigenic dyskinesia (PNKD), which occurs at rest; paroxysmal exertion-induced dyskinesia (PED), occurring after prolonged exercise; and paroxysmal hypnogenic dyskinesia (PHD), which occurs in sleep. Paroxysmal dyskinesias can be sporadic, familial (autosomal dominant inheritance), or secondary to other disorders...

BACKGROUND: Paroxysmal extreme pain disorder (PEPD) is an autosomal dominant painful neuropathy with many, but not all, cases linked to gain-of-function mutations in SCN9A which encodes voltage-gated sodium channel Nav1.7. Severe pain episodes and skin flushing start in infancy and are induced by perianal probing or bowl movement, and pain progresses to ocular and mandibular areas with age. Carbamazepine has been effective in relieving symptoms, while other drugs including other anti-epileptics are less effective...