Table 1. Clinical features of FRDA.
System | Pathology | Clinical result |
---|---|---|
Neurological | Degeneration of large sensory neurones – proprioception | Loss of balance and coordination |
Loss of deep tendon reflexes | ||
Degeneration of spinocerebellar tracts (dorsal) | Loss of balance and coordination | |
Degeneration of dentate nucleus of the cerebellum | Loss of balance and coordination | |
Dysarthria (slurred speech) | ||
Eye movement abnormalities (modest) | ||
Degeneration of corticospinal tracts | Spasticity, pyramidal weakness | |
Visual | Degeneration of retinal ganglion cells | Optic neuropathy |
Auditory | Degeneration of auditory nerve | Auditory neuropathy |
Cardiac | Hypertrophic cardiomyopathy, with early hypertrophy, later fibrosis | ECG abnormalities |
Arrhythmias | ||
Progressive heart failure | ||
Endocrine | Loss of pancreatic islet cells | Diabetes mellitus |
Increased insulin resistance | Diabetes mellitus | |
Orthopedic | Scoliosis | |
Pes cavus (fixed plantar foot flexion; high arched feet) |
Abbreviation: ECG, electrocardiogram.