Progressive early-onset cerebellar ataxia, SEL1L-related
Also known as: SEL1L cerebellar ataxia · Progressive early-onset cerebellar ataxia · Early-onset progressive cerebellar ataxia in Finnish Hounds · SEL1L-associated ataxia · Cerebellar cortical degeneration (SEL1L-related)
Overview
What it is
This is a severe, inherited neurological disease, often abbreviated as FHA, that affects the cerebellum, which is the part of the brain responsible for coordinating movement. A genetic mutation in the SEL1L gene disrupts normal protein metabolism within cells, leading to the progressive degeneration and loss of vital nerve cells.
How it presents
Symptoms typically appear in early puppyhood, between 3 and 4 weeks of age, starting with uncoordinated movement, body tremors, and a loss of balance. The disease progresses rapidly, soon leaving the affected puppy unable to stand or walk independently.
Treatment
There is no cure or effective treatment for this progressive condition, and supportive veterinary care typically costs between 300 and 1000 EUR. Because the puppy's quality of life is severely compromised, humane euthanasia is unfortunately the standard recommendation.
How it's tested
SEL1L-assoziierte zerebelläre Ataxie DNA-Test(SEL1L)
Primary testDNA testEin Gentest, der die ursächliche Mutation im SEL1L-Gen identifiziert, um betroffene Hunde, Träger und mutationsfreie Tiere zu bestimmen.
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 Progressive early-onset cerebellar ataxia, SEL1L-related?
This is a severe, inherited neurological disease, often abbreviated as FHA, that affects the cerebellum, which is the part of the brain responsible for coordinating movement. A genetic mutation in the SEL1L gene disrupts normal protein metabolism within cells, leading to the progressive degeneration and loss of vital nerve cells.
How is Progressive early-onset cerebellar ataxia, SEL1L-related tested?
Tests currently in our database: SEL1L-assoziierte zerebelläre Ataxie DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.