Adrian Hepner, MD, PhD, Chief Medical Officer at Pharnext, discusses how patients with Charcot-Marie-Tooth disease type 1A (CMT1A) are usually diagnosed.
CMT1A is a rare inherited neurological disorder that causes damage to the peripheral nerves. It is caused by a duplication of the PMP22 gene. Usually, people with CMT1A are slow runners in childhood, can develop high arches and hammertoes and often require the use of braces for ankle support. Problems with balance because of ankle weakness and loss of proprioception are common. Most patients remain ambulatory throughout their lives and life expectancy is normal. Treatment for this condition may include physical therapy; occupational therapy; braces and other orthopedic devices; orthopedic surgery; and pain medications
As Dr. Hepner explains, the speed of diagnosis depends on whether they are seen by a specialist or not. If they are, a CMT1A diagnosis can take mere minutes. If they are not, proper diagnosis can take years. Due to the hereditary nature of the disease, CMT1A patients often have family members with the disease — according to Dr. Hepner, sometimes the best person to diagnose CMT1A is another CMT patient.
To learn more about CMT1A and other rare neurological disorders, visit checkrare.com/diseases/neurology