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Friedreich’s Ataxia


- Discussion:
    - most common form of spinal cerebellar degenerative dz;
    - onset usually before 10 years old;
    - tends to have acute onset;
    - dz caused by defeciency of the frataxin gene

- Clinical Manifestations:
     - staggering gait
     - pes cavus:
            - cavus foot deformity is symmetric and progressive;
            - initially, it is flexible but soon becomes fixed & may develop heel varus component;
            - intrinsic muscle wasting adds to the extrinsic muscle imbalance and contributes to the developing cavus deformity;
     - progressive ataxia
     - dysarthria;
     - diminished proprioception or vibratory sense;
     - muscle weakness and absent deep tendon reflexes;
     - scoliosis,
          - associated w/ hyperkyphosis, occurs in all pts;
          - onset of scoliosis before puberty is a major factor in prognosis;
     - Babinski's sign;
     - cardiomyopathy



Natural history of muscle weakness in Friedreich's Ataxia and its relation to loss of ambulation.