With so few patients evaluated so far, it is difficult to give a prognosis especially as the mechanism of harm is not yet fully understood.
From recent NIH research, we know that NGLY1 Deficiency is a progressive disease. Patients appear to lose functions with age (for example: peripheral neuropathy as well as auditory findings deteriorate). Some symptoms however appear to improve or remain stable over time such as the liver values and the movement disorder.
Most children do not appear to be medically fragile. However, some children have passed away at a young age primarily due to complications following respiratory infections and/or seizure complications.
Children with NGLY1 Deficiency have a relative strength in social skills. They have great difficulty acquiring new skills across many areas, but show good potential and benefit from a variety of inputs. Several patients can talk or communicate with speech-generating devices, may ambulate with the help of a gait-trainer, and a few are able to do simple reading and math.
Just as with other complex conditions, it is crucial not to underestimate the cognitive abilities of NGLY1 patients and to find ways to work around what might be severe physical, language and sensory challenges.