"Neurological symptoms related to this rare disease are usually seen in the first months of life. The first symptoms are muscular hypotonia, ataxia and delayed motor development. Nystagmus and epilepsy can also be seen. It eventually leads to significant intellectual disability. Patients may develop emphysema which is hypothesised to be due to abnormal inhibitory function of trypsin."
"There is no specific treatment. It mainly consists of supportive care. There is only a mild reduction in life expectancy 3."
"There is no specific treatment. It mainly consists of supportive care. There is only a mild reduction in life expectancy 3."