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.

Original Text by Clifford R. Wheeless, III, MD.

Last updated by Data Trace Staff on Tuesday, October 31, 2017 7:00 am