Importance of early diagnosis in CTX

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 disease^1,3

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