Disease onset is typically in early infancy but may occur later in life. Children who have the classic form of<unk>  develop symptoms within the first few weeks to months of life. Individuals with moderate or attenuated forms may develop symptoms at any time in childhood. Sometimes it is difficult to diagnose<unk>  because the symptoms can be misdiagnosed as Juvenile Idiopathic Arthritis (JIA). Diagnosis is confirmed by molecular genetic testing of the ASAH1 gene or by measuring acid ceramidase enzyme activity.
Farber disease
Keshan disease
Akureyri disease
Batten disease
Borna disease
Menkes disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
Karak syndrome