Skip to main content

Table 1 Cases Analyzed

From: Acid ceramidase deficiency: Farber disease and SMA-PME

  Cases mentioned in literature Average age of onset Average age of last documentation Average age of death
Classic & Severe FD 102 5.8 ± 4.6 M (70) 1.9 ± 1.8 Y (18) 2.6 ± 6.0 Y (61)
Mild & Intermediate FD 40 1.5 ± 1.4 Y (34) 14.9 ± 18.1 Y (26) 14.3 ± 8.1 Y (8)
FD (Unspecified) 16
SMA-PME 23 5.8 ± 4.2 Y (18) 16.5 ± 5.7 Y (15) 14.4 ± 3.0 Y (5)
SMA-PME Like 20 8.9 ± 7.38 (20) 22.68 ± 17.8 Y (10) 21.9 ± 17.2 Y (10)
Total FD 158    
Total SMA-PME 43    
  1. Total number of cases of ACDase deficiency reported from 1952 to 2018 by clinical presentation, severity, and average ages. Unspecified represents cases in which a diagnosis was made but insufficient clinical information was provided for placement in a clinical category. (See Additional file 1 for methodology). M months, Y years, number in brackets indicates the total number of cases included to calculate the average age and standard deviation