Little is known about patient reported outcomes in patients with CM.

A database of adults with CM has been maintained since January 1, 2015. Annual surveys are sent to patients for five years after diagnosis, followed by biennial surveys indefinitely. PROMIS-29 profiles, which assess seven health domains by self-report, have been collected since 2018. T-scores standardize raw scores to the general population with a mean of 50 and standard deviation (SD) of 10. We assessed the T-scores and proportion of abnormal scores in each domain by CM location at the time of last follow up (LFU).

Of the 382 patients enrolled as of June 1, 2022, 267 had available PROMIS-29 data. The cohort was 61.8% female with an average age at the time of LFU of 54.0. Median time from diagnosis to LFU was 5.3 years (range, 1.0 to 38.1). 18.7% were familial and 81.3% sporadic. 40.1% were cortical, 19.5% subcortical, 25.1% brainstem, 6.4% cerebellum, and 7.9% spinal cord, with 1.1% in other locations. 

43.9% of patients were abnormal in at least one of seven domains (>1 SD). The most commonly affected domains were pain (18.4%), anxiety (18.1%), physical function (16.5%), and fatigue (15.8%).  Patients with brainstem or spinal cord CM reported significantly worse physical functional than their counterparts with CM in other locations (p<0.0001). Patients with brainstem or spinal cord CM had a median T-score of 48.0 (range, 22.9 to 56.9) compared to a median of 56.9 for CM in other locations (range, 29.1 to 56.9). Other domains did not differ significantly by location.

Patients with brainstem or spinal cord CM report decreased physical functionality relative to patients with other CM locations but do not score significantly different in other PROMIS domains.