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Related Concept Videos

The Micturition Reflex01:26

The Micturition Reflex

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Urination, or micturition involves the coordination of the bladder's detrusor muscle and two sphincters to ensure controlled bladder emptying.
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The urinary system is responsible for eliminating waste and excess fluids from the body. However, disorders of the urinary system can arise due to various reasons like infections, stress, age, congenital abnormalities, and lifestyle.
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Sex-linked Disorders01:43

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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.
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Hereditary spastic paraplegias: When to expect bladder dysfunction a genetic and urodynamic study.

Pauline Lallemant-Dudek1,2, Marine Guillaud-Bataille3, Claire Hentzen4

  • 1Sorbonne Université, Paris Brain Institute (ICM Institut du Cerveau), INSERM, CNRS, Assistance Publique-Hôpitaux de Paris (APHP), University Hospital Pitié-Salpêtrière, Paris, France.

European Journal of Neurology
|December 20, 2024
PubMed
Summary

Hereditary spastic paraplegias (HSP) commonly cause detrusor overactivity and detrusor-sphincter dyssynergia. Urinary symptoms in HSP patients develop after gait issues and worsen with mobility decline.

Keywords:
SPG4/SPASTbowel disordershereditary spastic paraplegianeurogenic bladder

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Area of Science:

  • Neurology
  • Urology
  • Genetics

Background:

  • Hereditary spastic paraplegias (HSP) are a group of inherited neurological disorders.
  • Bladder dysfunction is a common but understudied complication of HSP.

Purpose of the Study:

  • To characterize the urodynamic profiles of patients with HSP.
  • To investigate the development and timing of bladder symptoms in relation to motor deficits in HSP.

Main Methods:

  • A multicentric retrospective study involving 122 patients with HSP and bladder disorders.
  • Review of medical and urodynamic records, including age of onset for gait and bladder symptoms, and disability stage.

Main Results:

  • The most common urodynamic findings were detrusor overactivity (72.1%) and detrusor-sphincter dyssynergia (65.3%).
  • Motor disorder onset (median 49.3 years) preceded bladder dysfunction onset (median 29.7 years).
  • Urinary symptoms developed later in SPAST gene mutation carriers compared to non-SPAST groups relative to spasticity onset.

Conclusions:

  • The prevalent urodynamic pattern in HSP aligns with upper motor neuron lesions.
  • Urinary disorders in HSP are secondary to spastic gait and become more frequent as walking ability declines.