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Related Concept Videos

Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin01:26

Directly Acting Muscle Relaxants: Dantrolene and Botulinum Toxin

Directly acting muscle relaxants like dantrolene and botulinum toxin (BoNT) have distinct mechanisms and applications. Dantrolene, a hydantoin derivative, acts on the ryanodine receptor (RYR1) in skeletal muscle cells. RYR1 are calcium channels present at the sarcoplasmic reticulum membrane. In response to excitation, they release calcium ions from the sarcoplasmic reticulum to the cytosol. Calcium promotes actin-myosin-mediated contraction of muscles.
The binding of dantrolene to the RYR1...
Parkinson's Disease: Overview01:15

Parkinson's Disease: Overview

Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is to...
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Parkinson Disease l: Introduction01:24

Parkinson Disease l: Introduction

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...

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Integrated Stress Response Signatures Drive Monocyte Dysfunction in GBA1- and LRRK2-Linked Parkinson's Disease.

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MSH3 is a genetic modifier of somatic repeat instability in X-linked dystonia parkinsonism.

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Related Experiment Video

Updated: Jun 1, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

Milestones in dystonia.

Laurie J Ozelius1, Naomi Lubarr, Susan B Bressman

  • 1Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York, USA.

Movement Disorders : Official Journal of the Movement Disorder Society
|June 1, 2011
PubMed
Summary

Significant advances in understanding dystonia genetics have led to molecular diagnoses. Effective treatments like deep brain stimulation and botulinum toxin are available, with future focus on genetic therapies.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Dystonia research has progressed significantly over the past 25 years.
  • Understanding genetic causes and pathophysiology is crucial for diagnosis and treatment.

Observation:

  • Twenty DYT loci and 10 genes have been identified through family linkage analyses.
  • Neurophysiological and imaging techniques reveal similarities and differences in dystonia subtypes.

Findings:

  • Genetic findings have shifted dystonia diagnoses from phenomenological to molecular.
  • DYT1 animal models are informing new treatment strategies.

Implications:

  • Effective treatments like deep brain stimulation and botulinum toxin are established.

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Induction and Assessment of Levodopa-induced Dyskinesias in a Rat Model of Parkinson's Disease
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Induction and Assessment of Levodopa-induced Dyskinesias in a Rat Model of Parkinson's Disease

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Related Experiment Videos

Last Updated: Jun 1, 2026

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia
10:41

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia

Published on: September 12, 2020

Measurement &amp; Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia
10:05

Measurement & Analysis of the Temporal Discrimination Threshold Applied to Cervical Dystonia

Published on: January 27, 2018

Induction and Assessment of Levodopa-induced Dyskinesias in a Rat Model of Parkinson's Disease
05:51

Induction and Assessment of Levodopa-induced Dyskinesias in a Rat Model of Parkinson's Disease

Published on: October 14, 2021

  • Future research aims to develop genetically-based therapies and prevent disease expression.