Hyperkinetic Movement Research Articles

Hyperosmolar Hyperglycemic State as a Stroke Mimic

Hyperosmolar hyperglycemic state (HHS) is a medical emergency, characterized by hyperosmolarity, hyperglycemia, and intravascular volume depletion, in the absence of ketosis. The spectrum of neurological manifestations in HHS is diverse, ranging from mild encephalopathy to coma. The common neurological presentations of HHS include encephalopathy, seizures, and hyperkinetic movement disorders. Stroke-like presentation of HHS is less reported. We report the case of an elderly female, with uncontrolled type 2 diabetes mellitus, who presented with left hemiplegia and, on evaluation, she was diagnosed to have HHS. As she was a chronic kidney disease patient, this case posed challenges in fluid management, which forms the corner stone of HHS management, along with insulin administration. She was discharged at the end of 1 week, with a complete resolution of her neurological deficit.

NGLY1 deficiency: a prospective natural history study.

N-glycanase 1 (NGLY1) deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases, (hypo)alacrima and progressive, diffuse, length-dependent sensorimotor polyneuropathy. A prospective natural history study (NHS) was conducted to elucidate clinical features and disease course. Twenty-nine participants were enrolled (15 onsite, 14 remotely) and followed for up to 32months, representing ~29% of the ~100 patients identified worldwide. Participants exhibited profound developmental delays, with almost all developmental quotients below 20 on the Mullen Scales of Early Learning, well below the normative score of 100. Increased difficulties with sitting and standing suggested decline in motor function over time. Most patients presented with (hypo)alacrima and reduced sweat response. Pediatric quality of life was poor except for emotional function. Language/communication and motor skill problems including hand use were reported by caregivers as the most bothersome symptoms. Levels of the substrate biomarker, GlcNAc-Asn (aspartylglucosamine; GNA), were consistently elevated in all participants over time, independent of age. Liver enzymes were elevated for some participants but improved especially in younger patients and did not reach levels indicating severe liver disease. Three participants died during the study period. Data from this NHS informs selection of endpoints and assessments for future clinical trials for NGLY1 deficiency interventions. Potential endpoints include GNA biomarker levels, neurocognitive assessments, autonomic and motor function (particularly hand use), (hypo)alacrima and quality of life.

Two new cases of brazilian boys presenting a Rett-like phenotype due to FOXG1: case report and literature review

Rett syndrome (RTT) is a rare neurodevelopmental disorder usually affecting females. Most typical forms of RTT patients are hemizygous for pathogenic variants in MECP2. FOXG1 syndrome is a rare and severe neurodevelopmental disorder with a broad spectrum of clinical features which could be described as RTT-like. In this paper we describe two non related patients who presented with developmental delay, microcephaly and hyperkinetic movements. One of them had epilepsy. Diagnosis was made by exome analysis and highlights an uncommon differential diagnosis in developmental delay in children.

Scoping Review on ADCY5-Related Movement Disorders.

Adenylyl cyclase 5 (ADCY5)-related movement disorder (ADCY5-RMD) is a rare, childhood-onset disease resulting from pathogenic variants in the ADCY5 gene. The clinical features, diagnostic options, natural history, and treatments for this disease are poorly characterized and have never been established through a structured approach. This scoping review attempts to summarize all available clinical literature on ADCY5-RMD. Eighty-seven articles were selected for inclusion in this scoping review. The majority of articles identified were case reports or case series. These articles demonstrate that patients with ADCY5-RMD suffer from permanent and/ or paroxysmal hyperkinetic movements. The paroxysmal episodes can be worsened by environmental triggers, in particular the sleep-wake transition phase in the early morning. Occurrence of nocturnal paroxysmal dyskinesias and perioral twitches are highly suggestive of the diagnosis when present. In the majority of patients intellectual capacity is preserved. ADCY5-RMD is considered a non-progressive disorder, with inter-individual variations in evolution with aging. Somatic mosaicism, mode of inheritance and the location of the mutation within the protein can influence phenotype. The current evidence for therapeutic options for ADCY5-RMD is limited: caffeine, benzodiazepines and deep brain stimulation have been consistently reported to be useful in case reports and case series.

Genotype–phenotype correlation and treatment effects in young patients with GNAO1-associated disorders

BackgroundPatients carrying pathogenic variants in GNAO1 often present with early-onset central hypotonia and global developmental delay, with or without epilepsy. As the disorder progresses, a complex hypertonic and hyperkinetic movement...

Valbenazine as treatment for Huntington's disease chorea

Chorea, the prototypical movement disorder in Huntington's disease, is a syndrome characterised by abrupt involuntary movements resulting from a continuous flow of random muscle contractions. 1 Cardoso F Seppi K Mair KJ Wenning GK Poewe W Seminar on choreas. Lancet Neurol. 2006; 5: 589-602 Summary Full Text Full Text PDF PubMed Scopus (220) Google Scholar Symptomatic treatment of chorea in patients with Huntington's disease should be considered when it causes functional disability, discomfort, or social embarrassment. 1 Cardoso F Seppi K Mair KJ Wenning GK Poewe W Seminar on choreas. Lancet Neurol. 2006; 5: 589-602 Summary Full Text Full Text PDF PubMed Scopus (220) Google Scholar One mainstay of pharmacological treatment is to reduce dopaminergic neurotransmission via inhibition of vesicular monoamine transporter type 2 (VMAT2), leading to presynaptic dopamine depletion. 2 Bashir H Jankovic J Treatment options for chorea. Expert Rev Neurother. 2018; 18: 51-63 Crossref PubMed Scopus (31) Google Scholar , 3 Koch J Shi WX Dashtipour K VMAT2 inhibitors for the treatment of hyperkinetic movement disorders. Pharmacol Ther. 2020; 212107580 Crossref Scopus (5) Google Scholar Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington's disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trialIn individuals with Huntington's disease, valbenazine resulted in improvement in chorea compared with placebo and was well tolerated. Continued research is needed to confirm the long-term safety and effectiveness of this medication throughout the disease course in individuals with Huntington's disease-related chorea. Full-Text PDF

The “Blast” Behind Jerky Eyes

AbstractOpsoclonus is defined as hyperkinetic, omnidirectional, spontaneous, and involuntary chaotic eye movements. Opsoclonus-myoclonus-ataxia syndrome is addressed by many names including “dancing eyes-dancing feet syndrome,” “Kinsbourne syndrome,” and “infantile polymyoclonia.” The early accounts of the clinical syndrome date back to 1962 when Marcel Kinsbourne described six cases of this phenotype. However, it was not until 1968 the association with occult neuroblastoma was first reported. We report the video of a 1-year-old boy who presented with this syndrome for a duration of 3 months. He was diagnosed to have an abdominal neuroblastoma and was treated with resection of the tumor and administration of intramuscular adrenocorticotropic hormone. He showed complete resolution of symptoms. The syndrome is difficult to recognize and might be confused with seizures, tremors, or chorea; hence, it is important that residents learnt to recognize this syndrome and look for an underlying tumor actively.

Diabetic Striatopathy; A Differential Worth Considering in Diabetic Patients with Acute Onset Hyperkinetic Movements or Basal Ganglia (Striatal) Abnormalities on Imaging. (P8-4.007)

<h3>Objective:</h3> To describe a rare but interesting neurologic complication of uncontrolled diabetes; diabetic striatopathy, and to discuss its presentation as an uncommon etiology of acute hyperkinetic movement disorders. <h3>Background:</h3> Diabetic striatopathy is described as a hyperglycemic state in conjunction with striatal abnormalities on imaging and or the presence of hyperkinetic movements such as chorea. Imaging abnormalities described include hyperdense appearance of the striatum on CT and hyperintensity of the striatum on T1 MRI sequence. Associated hyperkinetic movements are thought to be reversible with correction of hyperglycemia. Given its rarity and ease of being misdiagnosed, we present a case of a 74-year-old woman with imaging findings consistent with Diabetic striatopathy. She presented in-extremis from an outside hospital for neurosurgical evaluation of a left basal ganglia hemorrhage. Her past medical history included uncontrolled type 2 diabetes and hypertension. <h3>Design/Methods:</h3> Not Applicable <h3>Results:</h3> Physical examination revealed an intubated, comatose, hypotensive patient with an irregular pulse. Her Laboratory values suggested uncontrolled diabetes with a hemoglobin A1C of “&gt; 17.0%” (beyond the laboratory’s upper limit) and serum glucose of 611. She had profound diabetic ketoacidosis. A non-contrasted head CT revealed what was initially thought to be a left basal ganglia hemorrhage; same interpretation as the outside hospital but was later favored to likely represent “nonketotic hyperglycemic chorea” and less likely a basal ganglia hemorrhage by the attending radiologist. MRI confirmed this with T1 hyperintensity in the left striatum. <h3>Conclusions:</h3> Our patient passed away from her severe metabolic derangements and no hyperkinetic movements were observed. However, her presentation highlighted to us an important and underrecognized differential of basal ganglia hemorrhage on imaging especially in the setting of uncontrolled diabetes. The paucity of information surrounding its pathophysiology, poses an area of potential research. Often cited as associated with hyperglycemic nonketotic state, it was enlightening to see it in diabetic ketoacidosis. <b>Disclosure:</b> Dr. Durojaye has nothing to disclose. Dr. Sammond has nothing to disclose. Dr. Moosavi has nothing to disclose.

Mania and Hemiballismus: A rare presentation of subthalamic stroke (P12-5.008)

<h3>Objective:</h3> Mania and hemiballismus are rare presenting features of acute ischemic stroke. We present a unique case of acute subthalamic stroke presenting with mania preceding hyperkinetic movements by several days making the diagnosis challenging and precluding the patient from acute stroke care. <h3>Background:</h3> 66 year old patient presented with abnormal movements. The patient’s symptoms began with sudden onset of increased activity levels, pressured speech, and insomnia. Four days later he presented to the hospital with acute onset of uncontrolled flailing and pain in the left arm and leg. MRI brain revealed an acute right subthalamic infarct. He was diagnosed with post stroke mania and hemiballismus. <h3>Design/Methods:</h3> NA <h3>Results:</h3> NA <h3>Conclusions:</h3> Hemiballismus is a rare presenting symptom of acute stroke. Widely accepted pathophysiology behind hemiballismus is a structural lesion in the subthalamic nucleus. The subthalamic nucleus contains glutaminergic neurons with projections to the globus pallidus interna. The glutaminergic neurons increase the activity of the globus pallidus interna, which contains GABAergic neurons that, in turn, decrease the activity of the thalamus and inhibit movement. Lesions of the subthalamic nucleus can disrupt the inhibition of movement by the globus pallidus interna and results in hyperkinetic movements like hemiballismus. The subthalamic nucleus has a role is mood, memory and behavior. Studies have shown to have variable effects of subthalamic deep brain stimulation on working memory and response inhibition performance and some reported cases with aggressive impulsive episodes, suicide and suicidal attempts, apathy, severe depression, psychosis, and hypomania following bilateral sub thalamic nucleus DBS. Our patient presented with acute onset of mania preceding development of hemiballismus by several days making the case diagnostically challenging. On literature review, we could not find a case with this presentation. With this case, we add to the multitude of presentation of acute stroke since acute stroke is a medical emergency and requires prompt management. <b>Disclosure:</b> Dr. Mann has nothing to disclose. Dr. Kelly has nothing to disclose. Dr. Leichliter has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for Neurocrine.

A Case of Idiopathic Immunotherapy-Responsive Autoimmune Hemichorea (P9-5.031)

<h3>Objective:</h3> We describe a case of relapsing hemichorea in a patient without imaging or laboratory abnormalities who had excellent responsiveness to immunotherapy. <h3>Background:</h3> Hemichorea is a hyperkinetic movement disorder characterized by involuntary, arrhythmic dance-like movements affecting one side of the body. Acute or subacute adult-onset hemichorea without structural lesion or metabolic derangement suggests a possible autoimmune cause. We present the case of a 74-year-old woman with a history of anxiety and mild cognitive decline who developed rapid onset of hemichorea with concurrent encephalopathy. <h3>Design/Methods:</h3> The patient was identified through direct care. The report was formulated through chart review. <h3>Results:</h3> The patient received her second dose of the primary COVID-19 mRNA vaccine series six weeks prior to symptom onset. One day prior to symptom onset she developed a mild erythematous upper extremity rash that was responsive to antibiotics. Over several days she developed left-sided hemichorea, encephalopathy, and transient auditory and visual hallucinations. Brain MRI, EEG, brain PET, and body PET-CT were unremarkable. Serum and CSF inflammatory markers were normal. Extensive and repeated serum and CSF testing for neuronal autoantibodies was negative. Serum autoantibody testing revealed only a positive anticardiolipin IgM, which was subsequently negative after multiple repetitions. She was empirically treated with 2 g/kg of IVIg and had near-complete resolution of her hemichorea and modest improvement in encephalopathy. Five months later she relapsed with an identical presentation and again received 2 g/kg of IVIg, which substantially decreased but did not fully resolve her hemichorea. She achieved remission following an outpatient course of methylprednisolone 750 mg IV weekly for nine weeks. Four months after treatment she relapsed again, this time achieving remission after repeated IV steroids and initiation of mycophenolate maintenance therapy. <h3>Conclusions:</h3> This case demonstrates the importance of considering autoimmune etiologies of hyperkinetic movement disorders and empiric immunotherapy in patients with an unrevealing workup. <b>Disclosure:</b> Dr. Rodin has nothing to disclose. Dr. Venna has nothing to disclose. The institution of Dr. Balaban has received research support from Biogen.

A review on approach to a twitchy tongue in neurology.

Several etiologies are responsible for presentation of a twitching tongue in clinical practice. Some of these etiologies cause an isolated hyperkinetic tongue muscle, and some others cause it along with other signs and symptoms. The present paper aims to review the causes, pathology, and presentations reported with twitchy tongue. An anatomical basis of the etiologies responsible for presentation of a twitchy tongue and hyperkinetic movement disorders of this muscle is pursued. The reporting of this systematic review was guided by the standards of the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) Statement. All of the research papers conducted with keywords described in the method section between 2000 and 2022 were used, and review articles and articles without any human subject and without any described hyperkinetic movement disorders of the tongue were excluded. All of the etiologies responsible for hyperkinetic movement disorders of tongue were listed in the basis of their anatomical site of effect; cortical region, basal ganglia, cerebellum, brain stem, nucleus and nerve, and neuromuscular junction. One last remained part is the "not classified" section, which contains the etiologies with no particular anatomical origin. There are a variety of responsible etiologies for presentation of a twitchy tongue, and in the matter of a complaint of hyperkinetic tongue presentation, physicians should consider anatomical, functional, and psychological etiologies and other signs and symptoms must be participated in the diagnosis process to achieve a proper medical decision.

Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic SLC30A9 Pathogenic Variants.

Birk-Landau-Perez syndrome is a genetic disorder caused by biallelic pathogenic variants in SLC30A9 presenting with a complex movement disorder, developmental regression, oculomotor abnormalities and renal impairment. So far it has been reported in only two families. We describe the clinical phenotype of eight further individuals from four unrelated families with SLC30A9-related disease. Following detailed clinical phenotyping, one family underwent research whole-genome sequencing (WGS), one research whole-exome sequencing (WES) and two diagnostic WGS. Variants of interest were assessed for pathogenicity using in silico prediction tools, homology modelling and where relevant, sequencing of cDNA for splicing impact. In two unrelated families of Pakistani origin (one consanguineous, one not), the same homozygous missense variant in SLC30A9 (c.1253G>T, p.Gly418Val) was identified. Family 1 included two affected brothers, and Family 2 one affected boy. In Family 3, also consanguineous, there were four affected siblings homozygous for the variant c.1049delCAG, pAla350del. The fourth family was non-consanguineous: the one affected individual was compound heterozygous for c.1083dup, p.Val362Cysfs*5 and c.1413A>G, p.Ser471=. Despite phenotypic variability between the four families, all affected patients manifested with a progressive hyperkinetic movement disorder, associated with oculomotor apraxia and ptosis. None had evidence of severe renal impairment. For the novel missense variant, the conformation of the loop domain and packing of transmembrane helices are likely to be disrupted based on structure modelling. Its presence in two unrelated Pakistani families suggests a possible founder variant. For the synonymous variant p.Ser471=, an impact on splicing was confirmed through cDNA analysis. Pathogenic variants in SLC30A9 cause a progressive autosomal recessive neurological syndrome associated with a complex hyperkinetic movement disorder. Our report highlights the expanding disease phenotype, which can present with a wider spectrum of severity than has previously been recognised.

Otros trastornos del movimiento, tics, corea

This update will review two types of abnormal hyperkinetic or dyskinetic movements, excessive movements that often interfere with voluntary motor actions: tics, with its maximum expression in Tourette syndrome, and chorea, which has a highly varied etiology and Huntington's disease as a paradigm.

Anticholinergics Should Not Be Used to Treat Tardive Dyskinesia: Insights From an Expert Panel of Psychiatry and Neurology Healthcare Professionals

AbstractIntroductionTardive dyskinesia (TD) is a persistent and often disabling hyperkinetic movement disorder associated with prolonged exposure to dopamine receptor blocking agents (e.g., antipsychotics, antiemetics). The use of anticholinergics for the treatment of movement disorders including TD is a common practice, despite a lack of supportive evidence and the potential to worsen TD. Moreover, there are now FDA-approved medications specifically indicated for TD. Two virtual meetings were held with movement disorder experts from neurology and psychiatry to better understand the real-world use of anticholinergics for TD.MethodsIn November 2020, a panel of eight experts was convened to gather insights on the challenges of differentiating TD from other drug-induced movement disorders (DIMDs) and to discuss appropriate treatments for TD and other DIMDs. A follow-up meeting was held in June 2021 to consolidate these insights. Key recommendations based on the panel discussions are presented.ResultsThe panel emphasized that while anticholinergics can help with managing some DIMDs, current evidence indicates that they are not effective in TD and may even worsen symptoms. Therefore, FDA-approved vesicular monoamine transporter 2 (VMAT2) inhibitors like valbenazine were recommended by the panel as first-line TD therapies. The panel noted that TD is often grouped under the term “extrapyramidal symptoms,” which leads to difficulty in differentiating TD from other DIMDs and the inappropriate treatment of TD with anticholinergics. The panel agreed that prophylaxis with anticholinergics is only appropriate in patients at high risk of acute dystonia. However, chronic anticholinergic use should be avoided whenever possible due to potentially serious adverse effects (e.g., cognitive difficulties) and anticholinergic burden, particularly in older patients. The potential for abuse, addiction, and diversion should also be considered when prescribing anticholinergics. Abrupt anticholinergic discontinuation can result in cholinergic rebound, which is characterized by sleep disturbances, gastrointestinal problems, urinary urgency, and manifestations of DIMDs. Thus, when used appropriately (e.g., for acute dystonia), anticholinergics should be prescribed at minimally effective doses and slowly tapered for successful discontinuation.ConclusionsThese findings align with the current TD treatment guidelines, including the lack of evidence for anticholinergic use and recommended first-line treatment with approved VMAT2 inhibitors. Conclusions from this panel highlight educational needs across HCPs on the phenomenology of DIMDs, the inappropriate use of anticholinergics for TD, TD risks and assessment, and treatment strategies for TD.FundingNeurocrine Biosciences, Inc.

Peripherally-induced Movement Disorders: An Update.

Peripherally-induced movement disorders (PIMD) should be considered when involuntary or abnormal movements emerge shortly after an injury to a body part. A close topographic and temporal association between peripheral injury and onset of the movement disorders is crucial to diagnosing PIMD. PIMD is under-recognized and often misdiagnosed as functional movement disorder, although both may co-exist. Given the considerable diagnostic, therapeutic, and psychosocial-legal challenges associated with PIMD, it is crucial to update the clinical and scientific information about this important movement disorder. A comprehensive PubMed search through a broad range of keywords and combinations was performed in February 2023 to identify relevant articles for this narrative review. The spectrum of the phenomenology of PIMD is broad and it encompasses both hyperkinetic and hypokinetic movements. Hemifacial spasm is probably the most common PIMD. Others include dystonia, tremor, parkinsonism, myoclonus, painful leg moving toe syndrome, tics, polyminimyoclonus, and amputation stump dyskinesia. We also highlight conditions such as neuropathic tremor, pseudoathetosis, and MYBPC1-associated myogenic tremor as examples of PIMD. There is considerable heterogeneity among PIMD in terms of severity and nature of injury, natural course, association with pain, and response to treatment. As some patients may have co-existing functional movement disorder, neurologists should be able to differentiate the two disorders. While the exact pathophysiology remains elusive, aberrant central sensitization after peripheral stimuli and maladaptive plasticity in the sensorimotor cortex, on a background of genetic (two-hit hypothesis) or other predisposition, seem to play a role in the pathogenesis of PIMD.

Non-invasive measurements of ictal and interictal epileptiform activity using optically pumped magnetometers

Magneto- and electroencephalography (MEG/EEG) are important techniques for the diagnosis and pre-surgical evaluation of epilepsy. Yet, in current cryogen-based MEG systems the sensors are offset from the scalp, which limits the signal-to-noise ratio (SNR) and thereby the sensitivity to activity from deep structures such as the hippocampus. This effect is amplified in children, for whom adult-sized fixed-helmet systems are typically too big. Moreover, ictal recordings with fixed-helmet systems are problematic because of limited movement tolerance and/or logistical considerations. Optically Pumped Magnetometers (OPMs) can be placed directly on the scalp, thereby improving SNR and enabling recordings during seizures. We aimed to demonstrate the performance of OPMs in a clinical population. Seven patients with challenging cases of epilepsy underwent MEG recordings using a 12-channel OPM-system and a 306-channel cryogen-based whole-head system: three adults with known deep or weak (low SNR) sources of interictal epileptiform discharges (IEDs), along with three children with focal epilepsy and one adult with frequent seizures. The consistency of the recorded IEDs across the two systems was assessed. In one patient the OPMs detected IEDs that were not found with the SQUID-system, and in two patients no IEDs were found with either system. For the other patients the OPM data were remarkably consistent with the data from the cryogenic system, noting that these were recorded in different sessions, with comparable SNRs and IED-yields overall. Importantly, the wearability of OPMs enabled the recording of seizure activity in a patient with hyperkinetic movements during the seizure. The observed ictal onset and semiology were in agreement with previous video- and stereo-EEG recordings. The relatively affordable technology, in combination with reduced running and maintenance costs, means that OPM-based MEG could be used more widely than current MEG systems, and may become an affordable alternative to scalp EEG, with the potential benefits of increased spatial accuracy, reduced sensitivity to volume conduction/field spread, and increased sensitivity to deep sources. Wearable MEG thus provides an unprecedented opportunity for epilepsy, and given its patient-friendliness, we envisage that it will not only be used for presurgical evaluation of epilepsy patients, but also for diagnosis after a first seizure.

The clinical and sleep manifestations in children with FOXG1 syndrome

FOXG1 syndrome is a rare neurodevelopmental disorder associated with severe cognitive dysfunction, autistic behavior, and early-onset hyperkinetic movement disorders. Patients have also been reported to experience sleep disturbances. However, these findings are mainly based on subjective caregivers' reports, and limited by small case numbers. Moreover, no studies using objective evaluation tools, such as actigraphy, have been reported. We analyzed the clinical and sleep manifestations of children with FOXG1 syndrome registered in the FOXG1 Research Foundation Patient Registry database. A total of 258 individuals with FOXG1 syndrome were included in this research. 132 (51.16%) had sleep disturbances. The more impaired of language acquisitions (absence of speech, OR: 3.99, 95%CI = 1.69-9.42, p = 0.002), hyperkinetic movement disorders (OR: 2.64, 95%CI = 1.34-5.20 p =0.005) and feeding difficulties (OR: 2.81, 95% CI = 1.52-5.19, p = 0.001) were significantly associated with an increase in odds of sleep disturbance after adjusting for age, sex, and antiepileptic drugs. We also performed sleep studies on six individuals with FOXG1 syndrome using The Children's Sleep Habits Questionnaire (CSHQ), the Sleep Disturbance Scale for Children (SDSC), and 7-day data from Actiwatch. The Pittsburgh Sleep Quality Index (PSQI) and 7-day data from Actiwatch were also used to evaluate the sleep condition of their parents. The CSHQ scores revealed bedtime resistance, sleep onset delay, sleep duration, sleep anxiety, night-waking, and parasomnia. Sleep-wake transition disorders and disorders of initiating and maintaining sleep were also suggested by the SDSC scores. The children's actigraphy revealed short sleep durations, impaired sleep efficiency, longer wake after sleep onset, and frequent night-waking. All caregivers reported significantly higher PSQI scores, mildly declined sleep efficiency, and shorter total sleep duration. Sleep disturbances, especially in initiating and maintaining sleep, are common in individuals with FOXG1 syndrome and their caregivers. Sleep disorders in patients with FOXG1 syndrome and their caregivers should be investigated.

The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.

The fascinating phenotypic spectrum of SCN1A gain-of-function epilepsies.

Emergencies in movement disorders

Movement disorders can be defined as the abnormality of the speed and form of body movements. Although movement disorders often occur chronically, they can sometimes develop acutely or sub-acutely, and some can be fatal if not diagnosed and treated early. Here, emergencies in movement disorders are discussed under two main headings as emergencies related to hyperkinetic movement disorders and emergencies related to hypokinetic movement disorders. This review draws attention to the importance of that accurate diagnosis and early treatment can be life-saving in emergencies in movement disorders. It also provides recommendations for diagnosis and therapy.

CAMK4-related Case of Hyperkinetic Movement Disorder.

Video 1. Segment 1: This segment shows the patient's hyperkinetic movemets while he is lying on the ground. Segment 2: This segment shows the patient's hyperkinetic movemets and his gait while he is walking with support. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.