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Table 2 Main Clinical Features Present in Cases Related to ACDase Deficiency

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

Variants Cases with clinical details Nodules Joint contractures Hoarse voice Hepatosplenomegaly Neurological and behavioral Respiratory Motor neuron/Muscle weakness Ocular Bone Myoclonus & seizures
Classic and Severe FD 79 95% 96% 90% 38% 62% 38% 32% 22% 18% 19%
Mild & Intermediate FD 36 94% 97% 72% 3% 22% 25% 25% 8% 31% 14%
SMA-PME 20 0% 0% 0% 0% 60% 45% 100% 0% 0% 100%
SMA-PME (like) 19 0% 0% 0% 0% 32% 26% 95% 0% 0% 100%
  1. Percentage representations of common clinical features in the literature for FD and the SMA-PME variant of ACDase deficiency