Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report.

Genetic variations in the ASAH1 gene are associated with a spectrum of disorders ranging from Farber disease (FD) to spinal muscular atrophy with or without progressive myoclonic epilepsy (SMA-PME). FD presents most commonly in infants with subcutaneous joint nodules, progressive arthritis and granulomas of the larynx and epiglottis leading to a hoarse cry. SMA-PME is characterized by childhood onset progressive weakness due to motor neuron disease followed by progressive epilepsy, tremor, and sensorineural hearing loss. We present a case of a 4-year-old boy with phenotypic features of both FD and SMA who was found to have two previously unreported heterozygous variants in the ASAH1 gene. © 2020 Wiley Periodicals LLC.

Citation

Bo Hoon Lee, Phillip Mongiovi, Thierry Levade, Bethany Marston, Joan Mountain, Emma Ciafaloni. Spinal muscular atrophy and Farber disease due to ASAH1 variants: A case report. American journal of medical genetics. Part A. 2020 Oct;182(10):2369-2371

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PMID: 32627310

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