Friedrich's Ataxia

FRIEDREICH'S ATAXIA
Etiology:
  • Autosomal Recessive disorder, Most common form of Inherited Ataxiae
  • The classic form of Friedreich's ataxia has been mapped to 9q13-q21.1, and the mutant gene, frataxin, contains expanded GAA triplet repeats in the first intron. There is homozygosity for expanded GAA repeats in >95% of patients.
Normal persons have 7–22 GAA repeats, and patients have 200–900 GAA repeats.
Characteristic Diagnostic features:
  • Chronic Slowly progressive cerebella,- ataxia
  • Absent lower limb deep tendon reflexes with an extensor plantar response
  • Associated features of
  1. Cardiomyopathy
  2. Diabetes
  3. Spine or foot deformity
  4. Clinical and Histologic manifestations:
  • The primary sites of pathology: spinal cord, dorsal root ganglion cells, and the peripheral nerves
  • The cerebral cortex is histologically normal except for loss of Betz cells in the precentral gyri
  • Chronic progressive wide based ataxia, Progressive staggering gait
  • Frequent falls, truncal titubation
  • Loss of fast saccadic eye movements -Nystagmus, Dysarthria, Dysmetria Titubation
  • The median age of death is 35 years
  • Women have a significantly better prognosis than men
  • Other Characteristic Manifestation
  • hoscoliosis (spine defbrinity) Pescavus (foot deformity)

  1. Orthopaedic
  2. KypCardiac
  3. Cardiomyopathy (90%)
  4. Endocrine
  5. Diabetes (20%)
  6. Eye
  7. Optic and Retinal Atrophy
  8. Psychiatric
  9. Dementia
Exam Question
FRIEDREICH'S ATAXIA
Etiology:
The classic form of Friedreich's ataxia has been mapped to 9q13-q21.1, and the mutant gene, frataxin, contains expanded GAA triplet repeats in the first intron. There is homozygosity for expanded GAA repeats in >95% of patients.
  • Characteristic Diagnostic features:
  • Chronic Slowly progressive cerebella,- ataxia
  • Absent lower limb deep tendon reflexes with an extensor plantar response
Associated features of
- Cardiomyopathy
- Diabetes
- Spine or foot deformity

Don't Forget to Solve all the previous Year Question asked on Friedrich's Ataxia