Table 4a.

Treatment of Manifestations in Individuals with ASAH1-Related Disorder: Farber Disease

Manifestation/
Concern		TreatmentConsiderations/Other
Aspiration pneumonia Gastrostomy tube placement
Compromised
airway 		TracheostomyConsider if airway compromised due to presence of granulomas or for those who are ventilator dependent
Surgical removal of granulomas in airway & oral cavityIn 1 case, surgical removal of granulomas resulted in improved oral intake & ↓ airway obstruction [Haraoka et al 1997].
Seizures Standard ASM as determined by treating neurologist
Cutaneous &
joint-related
symptoms of FD 		Bone marrow transplantation (BMT)BMT does not alter progression of motor neuron disease or other neurologic manifestations [Yeager et al 2000, Torcoletti et al 2014, Cappellari et al 2016].
Hematopoietic stem cell transplantationShown to improve only the peripheral manifestations of FD [Ehlert et al 2007, Jarisch et al 2014]

ASM = anti-seizure medication

From: ASAH1-Related Disorders

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