Rhomberg's sign is usually present at the time of diagnosis. Decreased pain and touch perception may be present. Scoliosis is common and may be severe, especially in early onset cases. Peripheral cyanosis of the lower limbs is common and most patients complain of cold feet. Ten percent develop sensorineural deafness and one-third develop diabetes mellitus or a mild carbohydrate intolerance.
Symptoms are rare with the exception of exertional dyspnea.
Angina and palpitations may occur but are rare. There may be clinical evidence of ventricular hypertrophy, systolic ejection murmurs, and third or fourth heart sounds in asymptomatic patients. Cardiac failure and arrhythmias occur as a preterminal event. Symmetric concentric hypertrophy is the most common finding by echocardiography. The brain, cerebellum, and brainstem are left relatively unaffected by this disease, with the exception of occasional patchy loss of Purkinje cells and mild degenerative changes in the brain stem nuclei and optic tract.