Spinocerebellar ataxia, CAPN1-related(SCA)
Also known as: Spinocerebellar Ataxia CAPN1 · CAPN1-SCA · Spinozerebelläre Ataxie (CAPN1) · Calpain-1 Ataxia · Late-Onset Ataxia CAPN1
Overview
What it is
This is an inherited neurological disorder caused by a genetic mutation in the CAPN1 gene, which leads to progressive damage in the cerebellum, the part of the brain that controls movement and balance. Without the proper function of this gene, nerve cells in the brainstem and cerebellum degenerate, disrupting the animal's ability to coordinate its limbs. This results in a steady decline in motor control.
How it presents
Affected dogs typically begin showing signs of coordination issues, a wobbly gait, and frequent falling between 6 and 12 months of age. These balance difficulties steadily worsen over time as the neurological damage progresses.
Treatment
There is no cure for this progressive disease, and treatment is limited to supportive care to manage symptoms. Lifetime palliative care and diagnostic costs typically range from 500 to 2500 EUR, though the severe decline often leads to a decision for early euthanasia.
How it's tested
Spinozerebelläre Ataxie (SCA) CAPN1-DNA-Test(SCA (CAPN1))
Primary testDNA testEin molekularbiologischer Gentest zum Nachweis der ursächlichen Mutation im CAPN1-Gen, die für die spinozerebelläre Ataxie verantwortlich ist.
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 Spinocerebellar ataxia, CAPN1-related?
This is an inherited neurological disorder caused by a genetic mutation in the CAPN1 gene, which leads to progressive damage in the cerebellum, the part of the brain that controls movement and balance. Without the proper function of this gene, nerve cells in the brainstem and cerebellum degenerate, disrupting the animal's ability to coordinate its limbs. This results in a steady decline in motor control.
How is Spinocerebellar ataxia, CAPN1-related tested?
Tests currently in our database: Spinozerebelläre Ataxie (SCA) CAPN1-DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.