Tremor and Other Hyperkinetic Movements

CLINICAL VIGNETTE: We present the case of a patient who developed intra-operative pneumocephalus during left globus pallidus internus deep brain stimulation (DBS) placement for Parkinson's disease (PD). Microelectrode recording (MER) revealed that we were anterior and lateral to the intended target. CLINICAL DILEMMA: Clinically, we suspected brain shift from pneumocephalus. Removal of the guide-tube for readjustment of the brain target would have resulted in the introduction of movement resulting from brain shift and from displacement from the planned trajectory...

BACKGROUND: Huntington's disease like 2 (HDL2) has been reported exclusively in patients with African ancestry, mostly originating from South Africa. CASE REPORT: We report three patients in Mali including a proband and his two children who have been examined by neurologists and psychiatrists after giving consent. They were aged between 28 and 56 years old. Psychiatric symptoms were predominant in the two younger patients while the father presented mainly with motor symptoms...

BACKGROUND: Acute to subacute pediatric movement disorders require prompt diagnosis to identify potentially treatable diseases. CASE REPORT: We present a 6-year-old male with a three-week history of generalized chorea transitioning to predominantly right-sided hemichorea and then to left hemiplegia. DISCUSSION: We review the mechanisms in tuberculous meningitis underlying his movement abnormalities.

BACKGROUND: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240 . A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered a defining component of the disease. CASE SERIES: We describe two newly identified families harboring the recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and the mother of the first proband developed movement disorders, manifesting as myoclonic dystonia and action-induced dystonia without co-occurring ataxia in one case, and pancerebellar syndrome complicated by action-induced dystonia in the other...

BACKGROUND: Evaluating tremor severity is a critical component of diagnosing and clinically managing patients with essential tremor (ET). We examined the comparability of tremor severity ratings derived from two frequently used tremor rating scales: the Washington Heights-Inwood Genetic Study of Essential Tremor (WHIGET) rating scale and the Tremor Research Group Essential Tremor Rating Scale (TETRAS). METHODS: A trained assistant administered and videotaped a neurological examination, including eight items assessing upper limb action tremor (arms outstretched, arms in the wingbeat position, finger-nose-finger maneuver, and drawing of Archimedes spirals)...

BACKGROUND: Tardive Dyskinesia (TD) is a neurological disorder characterized by involuntary movements, often caused by dopamine receptor antagonists. Vesicular Monoamine Transporter 2 (VMAT2) inhibitors, such as valbenazine and deutetrabenazine, have emerged as promising therapies for TD and several clinical trials have shown their efficacy. This study aims to compare the efficacy and safety profile of VMAT2 inhibitors, focusing on a recent trial conducted in the Asian population. METHODS: We reviewed the PubMed, Cochrane Library, Embase database, and clinicaltrials...

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by bi-allelic pathogenic variants in CYP27A1 gene that results in the deposition of cholestanol in the eyes, tendons, soft tissues and nervous system leading to cataracts, xanthomas, and various neuropsychiatric manifestations. The aim of our study is to describe the clinical, radiological and genetic profile of patients with CTX. METHODS: This is a retrospective chart review of patients with CTX diagnosed based on classical clinical and radiological findings...

BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a rare inherited autosomal recessive neurometabolic disorder caused by pathogenic variants in the L2HGDH gene which encodes mitochondrial 2-hydroxyglutarate dehydrogenase. Here, we report a case of L2HGA in a Mexican-Mayan patient with a homozygous mutation at L2HGDH gene and clinical response to vitamin supplements and levocarnitine. CASE REPORT: A 17-year-old, right-handed female patient with long-term history of seizures, developmental delay and ataxia was referred to a movement disorders specialist for the evaluation of tremor...

BACKGROUND: The wing-beating tremor, characteristic of Wilson's disease (WD), is a disabling symptom that can be resistant to anti-copper and anti-tremor medications. PHENOMENOLOGY SHOWN: This video illustrates severe bilateral wing-beating tremor, moderate head and lower limb tremors, mild cervical dystonia, and subtle cerebellar ataxia, with nearly resolution after penicillamine treatment. EDUCATIONAL VALUE: This case highlights a typical aspect of WD, emphasizing the importance of early detection and treatment, and its correlation with MRI findings...

BACKGROUND: Cervical dystonia (CD) is the most common form of focal dystonia in adults. Studies show that physiotherapy (PT) in combination with BoNT has an effect on pain in cervical dystonia. We intended to test this hypothesis in a real-world setting to answer the question of whether pain is a good target symptom for prescribing PT. We also aimed to assess which form of PT is most appropriate for the treatment of pain. METHODS: Study design: cross-sectional survey-based study of 91 patients with a confirmed diagnosis of cervical dystonia...

BACKGROUND: Jaw clonus refers to involuntary, rhythmic jaw contractions induced by a hyperactive trigeminal nerve stretch reflex; however, the movements, when triggered without a stretch, can be confused with a tremor. PHENOMENOLOGY SHOWN: This video demonstrates a patient with amyotrophic lateral sclerosis presenting with rapid rhythmic jaw movements seen at rest, alongside a power spectrum analysis revealing a narrow high-frequency peak of 10 Hz. EDUCATIONAL VALUE: Rhythmic jaw movements are seen in many disorders such as Parkinson's disease, essential tremor, tardive syndromes, and cranial myorhythmias; however, a high-frequency movement, regardless of clonus or tremor, can indicate amyotrophic lateral sclerosis when accompanied by typical upper and lower motor neuron signs...

BACKGROUND: A wide variety of associated movement disorders has been described in multiple sclerosis. PHENOMENOLOGY SHOWN: A 57-year-old woman with primary progressive multiple sclerosis developed spinal segmental myoclonus associated with focal myelitis. EDUCATIONAL VALUE: Movement disorders in multiple sclerosis are phenomenologically diverse and have varied pathophysiological mechanisms, making it essential to identify them to initiate appropriate treatment...

BACKGROUND: Roussy-Lévy syndrome (RLS) is characterized by postural hand tremor seen in patients with familial autosomal dominant Charcot-Marie-Tooth (CMT) neuropathy. PHENOMENOLOGY SHOWN: This video demonstrates irregular, jerky bilateral kinetic, postural, rest tremor affecting the right > left hand, along with pes cavus and gait ataxia in a patient with CMT disease. EDUCATIONAL VALUE: Pes cavus, tendon areflexia, sensory ataxia, and upper limb tremor should prompt consideration of CMT neuropathy...

BACKGROUND: Tourette syndrome (TS) is a neurologic condition characterized by motor and phonic tics. Dystonic tics, including blepharospasm, are considered atypical or unusual in severe TS. CASE REPORT: We report a severe case of TS with facial dystonic tics resembling blepharospasm in which the microlesion effect and a sustained therapeutic effect was observed with bilateral globus pallidus interna (GPi) deep brain stimulation (DBS). DISCUSSION: Bilateral GPi DBS can be beneficial for blepharospasm-like tics and severe symptoms of TS...

BACKGROUND: Tremor in Parkinson's disease (PD) is commonly seen in the upper extremities and can involve the lower extremities and mouth. We present a case of a patient with idiopathic PD who presented with abdominal tremor. CASE REPORT: A 40-year-old man with a 2-year history of subjective weakness and stiffness in the right arm and leg, followed by emergence of a right hand tremor, subsequently developed abdominal tremor. Patient experienced marked improvement of both abdominal and hand tremor and mobility of the right limbs with levodopa...

UNLABELLED: Currently, pathogenic variants in more than 500 different genes are known to cause various movement disorders. The increasing accessibility and reducing cost of genetic testing has resulted in increasing clinical use of genetic testing for the diagnosis of movement disorders. However, the optimal use case(s) for genetic testing at a patient level remain ill-defined. Here, we review the utility of genetic testing in patients with movement disorders and also highlight current challenges and limitations that need to be considered when making decisions about genetic testing in clinical practice...

BACKGROUND: Focal task-specific dystonia is a form of isolated focal dystonia that occurs during the performance of a specific skilled motor task. The occurrence of oromandibular dystonia (OMD) specifically in association with the recitation of Quranic verses have been rarely reported in the literature, in non-native Arabic-speaking patients. This case series describe a rare type of focal task-specific dystonia that occurs exclusively by reciting Quran in native Arabic-speaking patients, which has never been reported, to the best of our knowledge...

BACKGROUND: Essential tremor, the world's most prevalent movement disorder, lacks a clear understanding of its pathophysiology. Propranolol, a non-specific beta-blocker capable of crossing the blood-brain barrier, is a primary choice for essential tremor treatment. While its tremor-reducing effects are generally attributed to peripheral actions, various uses hint at central adrenergic effects. Nevertheless, propranolol's precise impact on the central nervous system in essential tremor subjects remains unexplored...

This video abstract delves into the expanded definition of diabetic striatopathy, linked initially to hyperglycemia-induced choreoballism and striatal hyperintensity on magnetic resonance imaging, but now recognized to encompass a broader range of acute onset, non-choreoballistic movement disorders in diabetes mellitus, including tremors, hemifacial spasm, parkinsonism, different types of myoclonus, dystonia, restless leg syndrome, ataxia, and dyskinesias. We report the case of a 45-year-old female patient with type-2 diabetes mellitus who developed propriospinal myoclonus, characterized by painless, involuntary jerky movements of the bilateral lower limbs in a supine position after admission for suspected rhino-orbital mucormycosis...

BACKGROUND: Functional movement disorders (FMD) are a diagnostic and therapeutic challenge, both to the neurologist and psychiatrists. The phenomenology is varied and can present as tremors, dystonia, jerks/myoclonus, gait disorder, other abnormal movements or a combination. There has been an increase in the use of electrophysiological studies that are an important tool in the evaluation of FMDs. METHODS: We searched the database platforms of MEDLINE, Google scholar, Web of Sciences, Scopus using the Medical Subject Heading terms (MeSH) for all the articles from 1st January 1970 till November 2022...