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% |