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Related Concept Videos

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,...
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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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...
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As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
Disorders of the Skeletal Muscle01:28

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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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...

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Related Experiment Video

Updated: Jun 27, 2026

Full-Endoscopic Surgery for Hypothalamic Hamartoma Resection
02:22

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Published on: April 12, 2024

Hemidystonia-hemiatrophy syndrome.

Subhashie Wijemanne1, Joseph Jankovic

  • 1Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, Texas 77030, USA.

Movement Disorders : Official Journal of the Movement Disorder Society
|December 20, 2008
PubMed
Summary

The HD-HA syndrome, combining hemidystonia and hemiatrophy, often stems from early-life brain injury or stroke. This study defines its clinical and radiological features in 26 patients.

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

Background:

  • Hemidystonia (HD) is a disabling neurological condition.
  • Hemidystonia is rarely associated with hemiatrophy (HA) of the affected body part.
  • The HD-HA syndrome combines these two conditions, similar to hemiparkinsonism-hemiatrophy syndrome.

Purpose of the Study:

  • To define the clinical and radiological features of the HD-HA syndrome.
  • To understand the underlying causes and progression of HD-HA.

Main Methods:

  • Retrospective review of 26 patients diagnosed with HD-HA syndrome.
  • Analysis of medical records, video recordings, and imaging studies (including MRI).
  • Evaluation of patient history, onset of symptoms, and treatment responses.

Main Results:

  • The study included 26 patients (14 female) with a mean age at HD onset of 14.9 years.
  • 14 patients (53%) had left-sided HD and HA; 88% had preceding hemiparesis.
  • Common causes included birth/perinatal complications (13) and stroke (10); 85% had abnormal brain MRI findings.

Conclusions:

  • HD-HA syndrome is typically associated with static encephalopathy from early childhood.
  • It can also result from delayed sequelae of stroke or brain injury.
  • Botulinum toxin injections showed positive treatment response in 16 patients.