Dystonia, chorea, hemiballismus and other dyskinesias

Bologna, Matteo; Valls‐Solé, Josep; Kamble, Nitish; Pal, Pramod Kumar; Conte, Antonella; Guerra, Andrea; Belvisi, Daniele; Berardelli, Alfredo

doi:10.1016/j.clinph.2022.05.014

Cited by 8 publications

(10 citation statements)

References 280 publications

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“…Dystonia involves sustained or intermittent muscle contractions that lead to abnormal movements or postures, which can be focal, segmental, or generalized. Chorea is characterized by irregular, rapid, jerky movements that flow randomly from one body part to another [2]. Athetosis is marked by slow, writhing movements, often affecting the hands, feet, and face.…”

Section: Definition and Classification Of Secondary Movement Disordersmentioning

confidence: 99%

A Comprehensive Review of Secondary Movement Disorders

R. Santos

2024

Preprint

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Secondary movement disorders (SMDs) represent a heterogeneous group of neurological conditions characterized by abnormal, involuntary movements resulting from various underlying causes. This comprehensive review aims to thoroughly understand SMDs, including their epidemiology, pathophysiology, clinical manifestations, diagnostic approach, and management strategies. SMDs encompass a spectrum of movement abnormalities, including dystonia, chorea, athetosis, myoclonus, tics, and tremors. They can arise from a multitude of etiologies, such as drug-induced effects, post-infectious processes, metabolic disturbances, and structural brain lesions. The epidemiology of SMDs varies depending on the underlying cause, with some conditions being more prevalent in specific populations or age groups. Understanding the pathophysiology of SMDs is crucial for accurate diagnosis and targeted management. Diagnosing SMDs requires a comprehensive approach, including a detailed history, physical examination, laboratory investigations, neuroimaging studies, and sometimes electrophysiological studies. Management of SMDs is multifaceted and may involve pharmacological, non-pharmacological, and surgical interventions. Individualized treatment plans are essential, considering the underlying cause, severity of symptoms, and patient preferences. Emerging concepts in the field of SMDs include advancements in genetic research, identification of biomarkers, and development of novel therapeutic approaches. There is a growing focus on patient-centered care and improving the quality of life for individuals with SMDs. In conclusion, SMDs pose diagnostic and therapeutic challenges, requiring a multidisciplinary approach for optimal management. Continued research and collaboration are essential for advancing our understanding and treatment of these complex disorders.

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Section: Definition and Classification Of Secondary Movement Disordersmentioning

confidence: 99%

A Comprehensive Review of Secondary Movement Disorders

R. Santos

2024

Preprint

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“…Given the prominent role of M1 dysfunction in the pathophysiology of movement disorders [32,33,76,77], low-intensity TUS could be applied over M1 with the aim of ameliorating cortical neurophysiological abnormalities and motor performance. A cardinal neurophysiological feature of both parkinsonism and dystonia pathophysiology is the reduced inhibition at the M1 level, as demonstrated by paired-pulse TMS [32,78,79].…”

Section: Possible Applications Of Tus In Movement Disordersmentioning

confidence: 99%

“…Low-intensity TUS could be effectively used in this context by leveraging existing knowledge. Along with changes in the basal ganglia-thalamo-cortical circuits in parkinsonism and dystonia pathophysiology, neurophysiological studies in these conditions have provided evidence of additional abnormalities at the cortical level, particularly in the primary motor cortex (M1), brainstem, and spinal cord circuits, including reduced inhibition, maladaptive plasticity, and altered sensory processing [32][33][34]. More recently, the role of the cerebellum and its interactions with the basal ganglia and cortical areas has been highlighted in both parkinsonism and dystonia pathophysiology [35,36].…”

Section: Introductionmentioning

confidence: 99%

Low-Intensity Transcranial Ultrasound Stimulation: Mechanisms of Action and Rationale for Future Applications in Movement Disorders

Guerra

Bologna

2022

Brain Sciences

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Low-intensity transcranial ultrasound stimulation (TUS) is a novel non-invasive brain stimulation technique that uses acoustic energy to induce changes in neuronal activity. However, although low-intensity TUS is a promising neuromodulation tool, it has been poorly studied as compared to other methods, i.e., transcranial magnetic and electrical stimulation. In this article, we first focus on experimental studies in animals and humans aimed at explaining its mechanisms of action. We then highlight possible applications of TUS in movement disorders, particularly in patients with parkinsonism, dystonia, and tremor. Finally, we highlight the knowledge gaps and possible limitations that currently limit potential TUS applications in movement disorders. Clarifying the potential role of TUS in movement disorders may further promote studies with therapeutic perspectives in this field.

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“…Additionally, this taskforce defined ballism as “ chorea affecting proximal joints such as the shoulder or hip, resulting in large-amplitude movements, sometimes with a flinging or flailing quality .” The timing, duration, and direction of these movements appear random, and each movement may have distinct beginning and ending points, but it can be difficult to distinguish between them because they frequently overlap or follow one another immediately. Consequently, the movements may appear to transition between different muscle groups and may involve various body parts, such as the trunk, neck, face, tongue, and extremities [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

Ortigoza-Escobar

2023

TOHM

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Background: Movement disorders, particularly chorea, are uncommon in inborn errors of metabolism, but their identification is essential for improved clinical outcomes. In this context, comprehensive descriptions of movement disorders are limited and primarily derived from single cases or small patient series, highlighting the need for increased awareness and additional research in this field. Methods: A systematic review was conducted using the MEDLINE database and GeneReviews. The search included studies on inborn errors of metabolism associated with chorea, athetosis, or ballismus. The review adhered to PRISMA guidelines. Results: The systematic review analyzed 76 studies out of 2350 records, encompassing the period from 1964 to 2022. Chorea was observed in 90.1% of the 173 patients, followed by athetosis in 5.7%. Various inborn errors of metabolism showed an association with chorea, with trace elements and metals being the most frequent. Cognitive and developmental abnormalities were common in the cohort. Frequent neurological features included seizures, dysarthria, and optic atrophy, whereas non-neurological features included, among others, facial dysmorphia and failure to thrive. Neuroimaging and biochemical testing played crucial roles in aiding diagnosis, revealing abnormal findings in 34.1% and 47.9% of patients, respectively. However, symptomatic treatment efficacy for movement disorders was limited. Discussion: This study emphasizes the complexities of chorea in inborn errors of metabolism. A systematic approach with red flags, biochemical testing, and neuroimaging is required for diagnosis. Collaboration between neurologists, geneticists, and metabolic specialists is crucial for improving early detection and individualized treatment. Utilizing genetic testing technologies and potential therapeutic avenues can aid in the improvement of patient outcomes.

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Dystonia, chorea, hemiballismus and other dyskinesias

Cited by 8 publications

References 280 publications

A Comprehensive Review of Secondary Movement Disorders

A Comprehensive Review of Secondary Movement Disorders

Low-Intensity Transcranial Ultrasound Stimulation: Mechanisms of Action and Rationale for Future Applications in Movement Disorders

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism

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