Lysosomal storage disease, ARSG related(ARSG)
Also known as: Arylsulfatase G deficiency · ARSG-related lysosomal storage disease · Cerebellar ataxia in American Staffordshire Terriers · ARSG-LSD · Lysosomale Speicherkrankheit (ARSG) · …
Overview
What it is
This is an inherited metabolic disorder, also known as Neuronal ceroid lipofuscinosis 4A (NCL4A), where a deficiency in the enzyme arylsulfatase G prevents cells from breaking down waste products. Over time, these waste materials build up inside lysosomes, which are the recycling centers of the cell, particularly damaging the nerve cells in the brain. This accumulation leads to progressive cell damage and degeneration throughout the nervous system.
How it presents
Symptoms typically become noticeable between 3 and 5 years of age, starting with an unsteady gait, loss of balance, and body tremors. These coordination problems, known as ataxia, are progressive and will steadily worsen over time.
Treatment
There is no cure for this condition, and treatment is limited to supportive care to manage symptoms and maintain comfort. Lifetime palliative care and diagnostic monitoring typically cost between 1,000 and 4,000 EUR, and euthanasia is often eventually required to prevent suffering.
How it's tested
ARSG DNA-Test(ARSG)
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der Mutation im ARSG-Gen, welche die lysosomale Speicherkrankheit (oft assoziiert mit zerebellärer Ataxie) verursacht.
Issuing body: other
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Lysosomal storage disease, ARSG related?
This is an inherited metabolic disorder, also known as Neuronal ceroid lipofuscinosis 4A (NCL4A), where a deficiency in the enzyme arylsulfatase G prevents cells from breaking down waste products. Over time, these waste materials build up inside lysosomes, which are the recycling centers of the cell, particularly damaging the nerve cells in the brain. This accumulation leads to progressive cell damage and degeneration throughout the nervous system.
How is Lysosomal storage disease, ARSG related tested?
Tests currently in our database: ARSG DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.