Objective: To provide information about the presentation, burden, and severity of movement disorder (MD) symptoms in cerebrotendinous xanthomatosis (CTX) from the patient perspective.

Background: CTX is a rare autosomal recessive metabolic disorder of bile acid synthesis leading to early-onset chronic diarrhea, juvenile-onset bilateral cataracts, tendon xanthomas, and progressive neurological deterioration. There is a paucity of data in the literature focused on the burden and severity of MD-related neurologic symptoms associated with CTX.

Method: A survey of patients with self-reported CTX (or reported by their caregiver) was conducted. The 53-question web-based survey focused on the burden of neuropsychiatric symptoms in patients with CTX and how the severity of these symptoms affected quality of life (QoL). The survey was distributed to participants via the CTX Alliance. Responses were collected from May to June 2024. The focus of this analysis was on the burden of MD-related neurologic symptoms in patients with CTX.

Results: Thirty-five participants responded to this survey who were either diagnosed with CTX (29%) or were caregivers (71%) of a patient(s) with CTX. Most participants had genetic confirmation of CTX (71.4%), were male (54%), with a median age of 29 years (Q1:16, Q3:34) at the time of CTX diagnosis. Eighty percent of participants indicated that they are experiencing neurologic and/or psychiatric decline. MD-related neurologic symptoms (eg, gait difficulty [68.8%], ataxia [46.7%], tremors [40.0%], and dystonia [36.4%]) were associated with a very high/severe burden. Importantly, these symptoms occurred years (>10 years on average) before a confirmed diagnosis of CTX, and the earlier these symptoms were present, the more burdensome they were. Furthermore, these MD-related neurologic symptoms were reported to severely interfere with the ability to work (64.3%) and maintain personal/family relationships (67.9%).

Conclusion: MD-related neurologic symptoms had a substantial burden on the QoL in patients with CTX. The onset of these symptoms often occurred years before the diagnosis of CTX highlighting the importance of early diagnosis to potentially impact symptom burden/treatment. Further systematic research is needed on symptomatic and potentially disease-modifying treatments that could significantly impact the burden of MD-related neurologic symptoms in patients with CTX.

« Back to 2025 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/the-severity-and-burden-of-movement-disorder-symptomology-in-patients-with-cerebrotendinous-xanthomatosis-a-us-based-survey/