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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...
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...
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...
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...

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Related Experiment Video

Updated: Jun 26, 2026

Measurement & 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

Early onset primary dystonia.

Giovanna Zorzi1, Federica Zibordi, Barbara Garavaglia

  • 1Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milano, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|January 23, 2009
PubMed
Summary

Dystonia involves sustained muscle contractions causing abnormal movements and postures. Early-onset primary dystonia (EO-PD) has genetic causes like TOR1A and PRKRA gene mutations, but many cases remain unexplained.

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Last Updated: Jun 26, 2026

Measurement & 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

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

Area of Science:

  • Neurology
  • Genetics
  • Movement Disorders

Background:

  • Dystonia is a neurological syndrome with sustained muscle contractions leading to abnormal postures and movements.
  • It is classified by onset, distribution, and etiology, including primary, dystonia plus, secondary, heredo-degenerative, and psychogenic forms.
  • Primary dystonia is characterized by dystonia as the sole neurological symptom, excluding tremor.

Purpose of the Study:

  • To review the classification and genetic underpinnings of dystonia, with a focus on early-onset primary dystonia (EO-PD).
  • To highlight known genetic mutations and loci associated with EO-PD and identify areas of ongoing research.

Main Methods:

  • Literature review of dystonia classification and genetic studies.
  • Analysis of etiological classifications and known genetic alterations in primary dystonia.
  • Examination of specific genetic forms like DYT1 and DYT16 dystonia.

Main Results:

  • Early-onset primary dystonia (EO-PD) is a severe, heterogeneous form of dystonia.
  • DYT1 dystonia, an autosomal dominant form, results from a TOR1A gene mutation.
  • DYT16 dystonia, a recessive EO-PD, is linked to PRKRA gene mutations, but many EO-PD cases lack identified genetic causes.

Conclusions:

  • Genetic factors play a significant role in various forms of dystonia, particularly EO-PD.
  • While specific gene mutations (TOR1A, PRKRA) are identified, a substantial portion of EO-PD cases remain genetically unresolved.
  • Further research is needed to uncover the genetic basis for unexplained EO-PD cases.