Details of Disease
General Information of Disease (ID: DISVPLB4)
| Disease Name | ASAH1-related disorders | ||||
|---|---|---|---|---|---|
| Synonyms | ASAH1-related disorders | ||||
| Definition |
The spectrum of ASAH1-related disorders ranges from Farber disease (FD) to spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). The diagnosis of an ASAH1-related disorder is established in a proband with suggestive clinical findings by identification of biallelic pathogenic variants in ASAH1 and/or decreased activity of the enzyme acid ceramidase in peripheral blood leukocytes or cultured skin fibroblasts.
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