Friedreich's ataxia

Alternative names:

spinocerebellar degeneration

Symptoms:

• unsteady gait (ataxia) that gets progressively worse
• jerky eye movements (nystagmus)
• explosive, abnormal speech (dysarthria)
• loss of coordination and balance
• frequent falls or falling more than usual
• difficulty with control of the hands, clumsiness
• muscle weakness (decreased muscle strength, independent of exercise)
  • legs, arms, or other parts of the body
  • may progress to paralysis

• difficulty getting out of a chair or climbing stairs (hip or pelvis weakness)
• deformity of the spine or feet
• shakiness, muscle tremors
• sensory changes, decreased sensation, or numbness
• dizziness
• impaired speech or language, abnormal speech rhythm, difficulty speaking clearly

Note: The intellect is normal.

Signs and tests:

• progressive ataxia
• absent deep tendon reflexes
• distal muscle weakness
• decreased or lost vibratory sense
• decreased positional sense
• kyphoscoliosis
• pes cavus
• hammer toe
• hypertrophic cardiomyopathy
• congestive heart failure

Tests may include:

• ECG
• X-ray of the chest
• X-ray of the spine
• electrophysiologic studies
• an EMG (electromyography)
• nerve conduction tests
• a muscle biopsy
• X-ray, CT scan, or MRI of the head