Hypertrophic concentric cardiomyopathy is found in a majority of patients. Skeletal deformities and abnormalities in glucose metabolism are common. Other associated findings may be facial dysmorphia, myoclonus, dystonia, postural tremor, supranuclear gaze paresis, and mental retardation. Sensorineural hearing loss may occur. The pathology of Fredreichs is largely confined to the dorsal root ganglion.
Cerebellar neurons are usually normal.
Cosee M and many others. De Pablos C, Berciano J, Calleja J. Brain stem auditory evoked potentials and blink reflex in Fredreich's ataxia. Clinical and Genetic Abnormalities in Patients with Fredreich's ataxia. There are two variants of episodic ataxia syndrome, called EA1 and EA2. In 1946, Parker described a familial ataxia characterized by attacks of generalized cerebellar ataxia beginning in the 3rd and 4th decade.