Ataxia, spinocerebellar, ITPR1-related(SCA)
Also known as: Spinocerebellar Ataxia ITPR1-related · ITPR1-SCA · Cerebellar Ataxia Italian Spinone Type · Spinozerebelläre Ataxie ITPR1 · ITPR1 ataxia
Overview
What it is
This is an inherited neurological disorder that affects the nervous system, specifically causing the progressive breakdown of the cerebellum, which is the part of the brain that controls movement and coordination. Because of a genetic mutation, the brain cells in this region cannot communicate properly and gradually die off. This leads to a loss of voluntary muscle control over time.
How it presents
Affected puppies typically begin showing signs of coordination loss between 2 and 4 months of age. Owners will notice an unsteady, wobbly gait, frequent loss of balance, and involuntary head or body tremors.
Treatment
There is no cure for this progressive condition, and treatment is limited to supportive care to keep the dog comfortable. Managing the symptoms and maintaining quality of life typically costs between 500 and 2000 EUR. Due to the severe and progressive nature of the disease, humane euthanasia is eventually necessary when mobility is lost.
How it's tested
Spinozerebelläre Ataxie (SCA) ITPR1 DNA-Test(SCA (ITPR1))
Primary testDNA testEin molekularbiologischer DNA-Test zum Nachweis der ursächlichen Mutation im ITPR1-Gen, die für die spinozerebelläre Ataxie verantwortlich ist.
Issuing body: Labogen
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 Ataxia, spinocerebellar, ITPR1-related?
This is an inherited neurological disorder that affects the nervous system, specifically causing the progressive breakdown of the cerebellum, which is the part of the brain that controls movement and coordination. Because of a genetic mutation, the brain cells in this region cannot communicate properly and gradually die off. This leads to a loss of voluntary muscle control over time.
How is Ataxia, spinocerebellar, ITPR1-related tested?
Tests currently in our database: Spinozerebelläre Ataxie (SCA) ITPR1 DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.