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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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Genetic Lingo01:11

Genetic Lingo

Overview
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 20, 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

[Genetics of dystonia].

C Kamm1

  • 1Universität Rostock, Klinik und Poliklinik für Neurologie, Gehlsheimer Strasse 20, Rostock. christoph.kamm@med.unirostock.de

Fortschritte Der Neurologie-Psychiatrie
|August 18, 2009
PubMed
Summary

Genetic mutations cause rare familial dystonias, a group of movement disorders. Recent research identifies 18 gene loci linked to dystonia, advancing understanding of its molecular causes.

Area of Science:

  • Neurology
  • Genetics
  • Molecular Biology

Context:

  • Dystonias are a diverse group of movement disorders.
  • Familial forms result from genetic mutations with Mendelian inheritance.
  • Sporadic forms are more common than inherited dystonias.

Purpose:

  • To review the progress in identifying genes causing dystonia.
  • To explore the molecular pathophysiology of dystonic symptoms.
  • To summarize current knowledge on genetic loci for primary dystonia, dystonia-plus syndromes, and paroxysmal dystonia.

Summary:

  • Significant advances have been made in identifying genes responsible for various dystonias.
  • Currently, 18 gene loci are associated with primary dystonia, dystonia-plus syndromes, and paroxysmal dystonia.

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Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
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Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

Related Experiment Videos

Last Updated: Jun 20, 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

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons
09:51

Rapid Genotyping of Animals Followed by Establishing Primary Cultures of Brain Neurons

Published on: January 29, 2015

  • The most common inherited form, DYT1 dystonia, is caused by a mutation in the DYT1 (TOR1A) gene, affecting the torsinA protein's role in cytoskeletal association and neuronal development.
  • Impact:

    • Identified genes like THAP1, ATP1A3, PRKRA, and SLC2A1 provide insights into specific dystonia subtypes.
    • Understanding the genetic basis of dystonia facilitates diagnosis and potential therapeutic strategies.
    • Further research is needed to discover the genes responsible for five additional identified primary dystonia loci (DYT2, DYT4, DYT7, DYT13, DYT17).