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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...
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,...
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 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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Updated: May 11, 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

Progressive dystonia.

Christine Klein1, Alexander Münchau

  • 1Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary
This summary is machine-generated.

Progressive dystonias are diverse movement disorders with genetic or unknown causes. Understanding genetic defects (DYT1-20) aids in diagnosing and managing these complex conditions.

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

Last Updated: May 11, 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

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

Published on: January 27, 2018

Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • Progressive dystonias encompass a heterogeneous group of movement disorders.
  • Primary dystonias present solely with dystonia, often with genetic origins.
  • Secondary dystonias involve dystonia as part of broader neurological conditions or insults.

Purpose of the Study:

  • To review the clinical and genetic heterogeneity of progressive dystonias.
  • To differentiate between primary and secondary forms of dystonia.
  • To highlight known genetic defects (DYT1-20) and associated syndromes.

Main Methods:

  • Literature review of dystonia classification and genetics.
  • Analysis of clinical features distinguishing primary and secondary dystonias.
  • Summary of identified monogenic defects and their inheritance patterns.

Main Results:

  • Monogenic defects underlie numerous dystonia syndromes (DYT1-20).
  • Specific genes are linked to isolated dystonia (DYT1, DYT6) and complex movement disorders (DYT5, DYT11, DYT12).
  • These conditions typically exhibit autosomal dominant inheritance, childhood onset, and progressive-stabilizing courses.

Conclusions:

  • Genetic factors play a significant role in various dystonia syndromes.
  • Secondary dystonias often present with additional neurological signs and may result from brain lesions or other disorders.
  • Accurate diagnosis relies on understanding the genetic basis and clinical presentation of dystonia.