Arylsulfatase G deficiency · ARSG-related lysosomal storage disease · Cerebellar ataxia in American Staffordshire Terriers · ARSG-LSD · Lysosomale Speicherkrankheit (ARSG) · NCL4A · Neuronal ceroid lipofuscinosis 4A · Neuronal ceroid lipofuscinosis, 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.
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.
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.
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
More conditions affecting the General / metabolic.