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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

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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...
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Pulmonary Function Tests01:25

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Pulmonary Function Tests (PFTs)
Pulmonary Function Tests are crucial diagnostic tools for assessing respiratory function, particularly in patients with chronic respiratory disorders. They comprehensively evaluate lung volumes, ventilatory function, breathing mechanics, diffusion, and gas exchange. These tests help diagnose pulmonary diseases and play a significant role in monitoring disease progression, evaluating disability, and assessing response to therapy.
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Pulmonary Hypertension: Classification and Pathogenesis01:30

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Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
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Chronic Obstructive Pulmonary Disease-II: Pathophysiology01:20

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Chronic Obstructive Pulmonary Disease01:24

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COPD is defined as a heterogeneous lung condition marked by persistent respiratory symptoms such as dyspnea, cough, and sputum production, caused by abnormalities in the airways that cause airflow obstruction.
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Pulmonary function in patients with Huntington's disease.

Alvaro Reyes1, Travis Cruickshank, Mel Ziman

  • 1School of Medical Sciences Edith Cowan University, 270 Joondalup Drive, Joondalup, 6027, WA, Australia. a.reyes@ecu.edu.au.

BMC Pulmonary Medicine
|June 3, 2014
PubMed
Summary

Pulmonary function is reduced in Huntington

Area of Science:

  • Neurology
  • Pulmonology
  • Genetics

Background:

  • Huntington's disease (HD) is a neurodegenerative disorder with various symptoms.
  • Respiratory issues like muscle weakness and swallowing difficulties are noted in HD.
  • Limited data exists on respiratory function in HD patients.

Purpose of the Study:

  • To assess pulmonary function in manifest Huntington's disease patients.
  • To compare respiratory function between HD patients and healthy individuals.
  • To determine the relationship between motor severity and respiratory function in HD.

Main Methods:

  • Pulmonary function tests were conducted on 18 HD patients and 18 healthy volunteers.
  • Motor severity was assessed using the Unified Huntington's Disease Rating Scale-Total Motor Score (UHDRS-TMS).

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  • Respiratory pressures were measured over three days to ensure reliability.

    • Main Results:

    • HD patients exhibited lower respiratory pressures, forced vital capacity, peak expiratory flow, and maximum voluntary ventilation compared to controls.
    • Pulmonary function measures were negatively correlated with motor severity (UHDRS-TMS).
    • Test-retest reliability for respiratory pressures was acceptable but more variable in HD patients.

    Conclusions:

    • Manifest Huntington's disease patients demonstrate impaired pulmonary function.
    • The degree of pulmonary function decline in HD is linked to the severity of motor symptoms.