Friedreich Ataxia and Lateral Corticospinal Tract
10 Questions
5 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to Lesson

Podcast

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is a characteristic early sign of lateral corticospinal tract degeneration?

  • Hypertrophic cardiomyopathy
  • Spastic paralysis
  • Atrophy and weakness of hands (correct)
  • Loss of vibratory sense

Which mutation is associated with some familial cases of lateral corticospinal tract degeneration?

  • Zinc-copper superoxide dismutase mutation (SOD1) (correct)
  • Chromosome 21 trisomy
  • GAA repeat expansion
  • Frataxin gene mutation

What is the primary cause of Friedreich Ataxia?

  • Mitochondrial dysfunction
  • X-linked inheritance
  • Autoimmune response affecting motor neurons
  • Expansion of an unstable trinucleotide repeat in the frataxin gene (correct)

What early symptoms characterize the degeneration of the cerebellum in Friedreich Ataxia?

<p>Ataxia and loss of proprioception (D)</p> Signup and view all the answers

Which condition is associated with hypertrophic cardiomyopathy?

<p>Friedreich Ataxia (C)</p> Signup and view all the answers

What type of sensory loss is typically associated with syringomyelia at the C8-T1 region?

<p>Loss of pain and temperature with preservation of fine touch (C)</p> Signup and view all the answers

Which of the following conditions is characterized by death within a few years after birth due to anterior motor horn degeneration?

<p>Werdnig-Hoffman Disease (D)</p> Signup and view all the answers

What specific syndrome can occur due to syrinx expansion in syringomyelia?

<p>Horner syndrome (C)</p> Signup and view all the answers

What is the primary effect of poliovirus infection on the spinal cord?

<p>Damage to the anterior motor horn (D)</p> Signup and view all the answers

Which statement best describes the presentation of Amyotrophic Lateral Sclerosis (ALS)?

<p>Mixed upper and lower motor neuron signs with both flaccid paralysis and spasticity (C)</p> Signup and view all the answers

Flashcards

Syringomyelia

A condition where fluid-filled cavities form within the spinal cord, often affecting the spinothalamic tract and causing sensory loss in a cape-like distribution.

Poliomyelitis

A viral infection that damages the anterior motor horn of the spinal cord, leading to lower motor neuron signs.

Werdnig-Hoffmann Disease

A rare, inherited disorder causing degeneration of the anterior motor horn, presenting as muscle weakness and atrophy in infants.

Amyotrophic Lateral Sclerosis (ALS)

A progressive neurodegenerative disease affecting both upper and lower motor neurons, leading to weakness, muscle atrophy and paralysis.

Signup and view all the flashcards

Babinski Sign (Positive)

A characteristic neurological sign associated with damage to the upper motor neuron pathway, where the big toe extends upwards instead of curling downwards.

Signup and view all the flashcards

Lateral Corticospinal Tract Degeneration

Degeneration of the lateral corticospinal tract, leading to upper motor neuron signs like spastic paralysis, hyperreflexia, increased muscle tone, and a positive Babinski reflex.

Signup and view all the flashcards

What is an early sign of Lateral Corticospinal Tract Degeneration?

A progressive neurodegenerative disease resulting from damage to the lateral corticospinal tract. Early signs include atrophy and weakness in the hands.

Signup and view all the flashcards

Friedreich Ataxia

A degenerative disorder affecting the cerebellum and spinal cord, leading to ataxia, loss of vibratory sense and proprioception, muscle weakness in the legs, and loss of deep tendon reflexes.

Signup and view all the flashcards

What is the genetic basis of Friedreich Ataxia?

An autosomal recessive disorder caused by an expansion of a GAA trinucleotide repeat in the frataxin gene. This leads to iron buildup and free radical damage.

Signup and view all the flashcards

Describe the progression of Friedreich Ataxia

A disorder affecting the cerebellum and spinal cord, leading to ataxia, loss of sensory perception, and muscle weakness. Typically presents in childhood and progresses to wheelchair dependence within a few years.

Signup and view all the flashcards

Study Notes

FRIEDREICH ATAXIA

  • Degenerative disorder of the cerebellum and spinal cord
  • Degeneration of the cerebellum leads to ataxia
  • Degeneration of multiple spinal cord tracts leads to loss of vibratory sense and proprioception, muscle weakness in the lower extremities, and loss of deep tendon reflexes.
  • Autosomal recessive; due to expansion of an unstable trinucleotide repeat (GAA) in the frataxin gene
  • Frataxin is essential for mitochondrial iron regulation; loss results in iron buildup with free radical damage.
  • Presents in early childhood; patients are wheelchair bound within a few years.
  • Associated with hypertrophic cardiomyopathy

LATERAL CORTICOSPINAL TRACT DEGENERATION

  • Leads to upper motor neuron signs—spastic paralysis with hyperreflexia, increased muscle tone, and positive Babinski sign.
  • Atrophy and weakness of hands is an early sign.
  • Lack of sensory impairment distinguishes ALS from syringomyelia.
  • Most cases are sporadic, arising in middle age adults.
  • Zinc-copper superoxide dismutase mutation (SOD1) is present in some familial cases; leads to free radical injury in neurons.

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

Quiz Team

Description

Explore the characteristics and clinical features of Friedreich Ataxia alongside the degeneration of the lateral corticospinal tract. Understand the implications of these disorders, including their genetic basis and presentation in affected individuals. This quiz will deepen your understanding of neurological conditions and their symptoms.

More Like This

Use Quizgecko on...
Browser
Open
Browser
Browser