Ataxia

Ataxia

Friedrich ataxia
1. autosomal recessive
2. Frataxin gene mutation
  1. repeat disorder
  2. presents w/
    1. worsening ataxia
    2. distal wasting in legs
    3. absent lower limb reflexes
      1. but extensor plantar responses
      2. due to pyramidal involvement
    4. pes cavus
    5. dysarthria
3. similar to hereditary motor sensory neuropathies
  1. but in FA there is
    1. impairment of
      1. joint position
      2. vibration sense
    2. extensor plantars
    3. often optic neuropathy
4. cerebellar component becomes more advanced w/ age
5. evolving kyphoscoliosis & cardiomyopathy
  1. can -> cardioresp compromise & death @ 40-50 years old
Ataxia telangiectasia
1. disorder of DNA repair
2. autosomal recessive
3. ATM gene IDed
4. presentation
  1. infancy
    1. mild delay in motor development
    2. oculomotor probs
      1. incoordination
      2. delay in ocular pursuit of objects (oculomotor dyspraxia)
  2. school age
    1. difficulty w/ balance
    2. difficulty w/ coordination
  3. from 4 years old
    1. telangiectasia in
      1. conjunctiva
      2. neck
      3. shoulders
5. many kids need a wheelchair
6. risks
  1. increased vulnerability to infection
    1. mostly from IgA surface antibody defect
  2. developing malignant disorders
    1. mostly acute lymphoblastic leukaemia
  3. have raised serum alpha fetoprotein
  4. increased white cell sensitivity to irradiation
    1. can be used diagnostically
7. diag
  1. ATM gene test
other hereditary cerebellar ataxias
1. growing number
2. largely dominantly inherited
3. relatively benign course in childhood

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	Criado por v.djabatey quase 11 anos atrás