Tremor and Other Hyperkinetic Movements最新文献

Background: Diaphragmatic flutter is an unusual movement disorder characterized by involuntary and repetitive contractions of the diaphragm. The pathophysiology is unclear. Its treatment is very difficult and challenging.

Case report: A 70-year-old man presented with diaphragmatic flutter associated with severe abdominal pain in a sitting position, which stopped in a supine position. Videofluoroscopy clearly depicted diaphragmatic movements on postural change. A spine correction belt was effective for stopping diaphragmatic flutter.

Discussion: This is the first reported case of diaphragmatic flutter for which a spine correction belt was used as successful and safe treatment.

Highlights: Diaphragmatic flutter is an unusual movement disorder of the diaphragm. We describe a 70-year-old man who presented with diaphragmatic flutter associated with severe pain in a sitting position, which stopped in a supine position. A spine correction belt was used as successful and safe treatment for diaphragmatic flutter.

Background: Sydenham chorea, a rare neurological manifestation of acute rheumatic fever, persists in developed countries due to rheumatogenic strains of group A streptococcus.

Phenomenology shown: This case demonstrates the evolution from subtle early symptoms to definitive severe choreiform movements in Sydenham chorea in a 10-year-old female.

Educational value: This case highlights the importance of early recognition, multidisciplinary management, and vigilance in medication administration to optimize outcomes in rare conditions such as Sydenham chorea.

Highlights: This case highlights the diagnostic and management challenges of Sydenham chorea, showcasing its progression from subtle early symptoms to definitive severe choreiform movements. It demonstrates the importance of early recognition, multidisciplinary care, and cautious medication administration to optimize outcomes in this rare neurological condition associated with rheumatic fever.

Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.

Phenomenology shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.

Educational value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.

Highlights: Ataxia-telangiectasia is a rare genetic disorder characterized by its eponymous features, progressive cerebellar ataxia and ocular telangiectasias. These signs can help in establishing an early diagnosis, hence preventing, or addressing secondary complications of the disease caused by impaired DNA repair, such as malignancies, immunodeficiency, and increased radiation sensitivity.

Background: Despite efforts to visualize all the movements of tongue and oropharynx in individuals with focal movement disorders (specifically tardive dyskinesia (TD)), clinicians can miss the complete picture and additional tools may be required to reach an accurate diagnosis.

Cases: We present three cases with TD where ultrasound assisted in diagnoses. These individuals had difficulty swallowing and abnormal sensations in the tongue, which remained undiagnosed until we performed ultrasound of oropharynx which allowed for characterization of these movements.

Discussion: Ultrasound is an ideal modality for imaging the tongue and oropharynx in TD. Further research should include large case series and standardized protocols for evaluation of these disorders.

Background: Myoclonus is a hyperkinetic movement with various attributable etiologies, semiologies, and treatment outcomes. To our knowledge, few studies investigated adult-onset myoclonus in an inpatient setting.

Methods: We retrospectively reviewed charts of adult inpatients with myoclonus at New York Presbyterian Brooklyn Methodist Hospital between 2011 and 2021. Data was analyzed with descriptive statistical methods to elucidate etiology-specific demographics and outcomes.

Results: 279 individuals, 56.63% female, were included in our study, aging at 70.61 + 15.76 years. More than 50% were not initially diagnosed with myoclonus by the admitting medical team, and more than 50% had 2 or more ascribable etiologies. Symptomatic myoclonus - mostly of toxic-metabolic or hypoxic-ischemic etiology - accounted for most cases. Hypoxic-ischemic etiologies had shorter durations prior to presentation and were also most resistant to treatment. Renal-associated myoclonus was most associated with asterixis, whereas stimulus-sensitive myoclonus was strongly associated with hypoxic-ischemic etiology. Mortality in-hospital was strongly associated with hypoxic-ischemic etiology and least associated with neurodegenerative and idiopathic etiologies. Treatment response rate diminished in patients who were tried on a second or third anti-seizure drug compared to those trialed on one.

Discussion: Myoclonus remains an underdiagnosed hyperkinetic movement disorder with various ascribable etiologies of varying demographic characteristics and treatment outcomes.

Background: Variants in the GCH1 gene, encoding guanosine triphosphate cyclohydrolase, are associated with dopa-responsive dystonia (DRD) and are considered risk factors for parkinson's disease.

Methods: Comprehensive neurological assessments documented motor and non-motor symptoms in a Chinese family affected by DRD. Whole-exome sequencing (WES) was employed to identify potential mutations, with key variants confirmed by Sanger sequencing and analyzed for familial co-segregation.

Results: The proband, a 50-year-old woman with a 10-year history of limb rigidity, abnormal posture, and a 23-year history of neck deviation, showed significant symptom improvement with levodopa treatment. Family evaluation revealed similar motor symptoms in four additional affected members, all responding well to levodopa. WES identified a GCH1 variant (NM_000161.3: c.-22C > T) in the 5'-untranslated region (5' UTR) in four symptomatic individuals (excluding deceased II-3). This variant likely affects translation by introducing an upstream initiation codon and open reading frame (uORF), leading to decreased BH4 levels and disrupted dopamine synthesis.

Discussion: This study reports a pathogenic variant in the 5' UTR of GCH1 in a family with DRD, underscoring the phenotypic heterogeneity associated with this locus.

Highlights: A non-coding variant (c.-22C > T) in the 5' UTR of the GCH1 gene is identified in a Chinese family with DRD.The findings reveal significant clinical heterogeneity within the family, highlighting the complex genotype-phenotype relationship.

Background: ATP1A3 mutations are associated with a diverse set of distinct neurological syndromes and intermediate phenotypes that may include extra-neural features. Overall, genotype-phenotype correlations are weak. There are no consensus treatments.

Case report: Video and clinical documentation is provided for a patient with a novel ATP1A3 mutation (GRCh38:19:41982028:C:A;NM_152296.5:c.1072G>T;p.Gly358Cys). This highly deleterious variant (Combined Annotation Dependent Depletion [CADD] score-28.8, Rare Exome Variant Ensemble Learner [REVEL] score -0.992) is not present in gnomAD v.4.1.0. Clinical manifestations include recurrent stereotypical episodes of paroxysmal dyskinesias that include jaw-opening dystonia superimposed on a baseline of developmental delay with static cognitive impairment, mild ataxia, and hypotonia. Paroxysmal episodes are triggered by emotional excitement, heat, cold, exercise, chocolate, and menses. The paroxysmal events typically last 5 min. Oxcarbazepine and clonazepam have reduced the frequency of paroxysmal episodes.

Discussion: ATP1A3 mutations are associated with protean manifestations that may include paroxysmal non-epileptic events such as ataxia, dystonia, and paresis. Accordingly, ATP1A3 mutation screening, most commonly as a multi-gene panel, and assessment of variant deleteriousness and population frequency should be completed in individuals with non-classical phenotypes. Benzodiazepines and drugs that target voltage gaited sodium channels (e.g., oxcarbazepine) may be effective therapeutic options.

Highlights: ATP1A3 mutations should be considered in patients with paroxysmal non-epileptic neurological events which may show clinical overlap with paroxysmal non-kinesigenic dyskinesias.

Background: Essential tremor (ET) is among the most common movement disorders, yet there are few treatment options. Medications have limited efficacy and adverse effects; thus, patients often discontinue pharmacotherapy or take several medications in combination. We evaluated the economic correlates (healthcare resource utilization [HCRU] and costs) and comorbidities among adults with and without ET and among subgroups of patients with ET prescribed 0 to ≥3 ET medications.

Method: This was a retrospective cohort study using claims data from the Merative Market Scan Research Databases (1/1/2017-1/31/2022). Patients were categorized as commercially insured (22-<65 years) or Medicare (≥65 years) and stratified into 3 subgroups: patients with untreated ET, patients with treated ET, and non-ET patients. The index date was the date of first ET diagnosis or a random date (non-ET patients); post-index follow-up was 24 months.

Results: There were 32,984 ET patients (n = 22,641 commercial; n = 10,343 Medicare) and 7,588,080 non-ET patients (n = 7,158,471 commercial; n = 429,609 Medicare). ET patients in both commercial and Medicare populations filled a numerically greater number of unique medications, had a higher numerical prevalence of comorbidities (ie, anxiety, depression, falls), and had numerically greater HCRU and costs than non-ET patients. Most of these numerical trends increased commensurately with increasing number of ET medications.

Conclusions: Compared to non-ET patients, ET patients have higher healthcare costs and utilization, which positively correlated with the number of ET medications. ET patients often have numerically more comorbidities compared to non-ET patients. This analysis demonstrates the medical complexity of ET patients and calls attention to the need for additional therapeutic options.

Background: Postural tremor is a common clinical situation. Timely and accurate diagnosis is essential for effective treatment. However, clinicians often encounter difficulties distinguishing between essential tremor and other etiologies due to overlapping symptoms and atypical features.

Case description: A twenty-year-old man presented with a five-year history of progressive hand tremors. Neurological examinations were notable for asymmetric postural tremors in both hands, with mild distal finger muscle wasting and subtle kinetic tremors. NCS/EMG revealed neurogenic changes in the C7-C8 myotome. Upon neck flexion, cervical spinal cord MRI revealed prominent flow voids in the widened posterior epidural space from C6 to T3 levels. We diagnosed him with Hirayama disease.

Discussion: Hand tremors caused by Hirayama disease have distinctive patterns from that of essential tremor (ET). In our patient, the prominent postural tremor, the involvement of finger joints rather than writs and elbows, and the spiral drawing waveforms argue against ET. Moreover, the onset age, absence of family history, and right-hand intrinsic muscle wasting are also red flag signs. Recognition of these clinical nuances is important to avoid misdiagnosis.

Highlights: Our case highlights the importance of thorough physical examinations and the necessity of considering Hirayama disease in young men presenting with hand tremors.

Background: Dystonia is a common hyperkinetic movement disorder observed in various genetic, infective, drug-induced, and autoimmune disorders. Autoimmune disorders can present with isolated or combined acute or subacute dystonia. The pattern and approach to dystonia in autoimmune disorders are poorly described and have never been established in a structured manner.

Objective: This scoping review aims to summarize all available clinical literature and formulate a pattern and approach to dystonia in different autoimmune disorders.

Methods: We included one hundred and three articles in this scoping review. Most articles identified were case reports or case series.

Results: In this review, we analysed data from 103 articles and summarized the epidemiological, clinical, and diagnostic features of dystonia associated with different autoimmune diseases. We highlight that dystonia can be isolated or combined in various autoimmune conditions and is responsive to immunotherapy. We point out the patterns of dystonia and associated neurological features and investigations that can suggest the underlying autoimmune nature, which can guide the most appropriate treatment.

Discussion: The clinical pattern of dystonia can be a unique feature in many autoimmune disorders. In isolated subacute dystonia, the presence of autoantibodies could have a temporal association, or this is just an epiphenomenon to be evaluated in further research.

Highlights: Many autoimmune disorders can present with isolated or combined dystonia.Subacute onset focal or segmental dystonia (craniocervical dystonia or limb dystonia) or hemidystonia could be secondary to an autoimmune condition and warrants investigations.They have a relapsing or progressive course.They usually have a good response to early immunotherapy.Symptomatic treatment, including botulinum toxin, can be useful in focal dystonia.