The variability and multisystem effects of CTX make it challenging to diagnose1
Although most patients will have several of the manifestations of CTX, they are variable in onset and severity and not every patient experiences every sign and symptom.1,2 Furthermore, because the manifestations affect different organ systems they are likely to present to different specialists, leading to delayed diagnosis and underdiagnosis.1
Early diagnosis and appropriate management can stabilize the disease1,3
Current mean age at diagnosis is 35.5 ± 11.8 years.1 By this time, neurologic problems are severe, disabling, and often irreversible.3,4