Spinocerebellar Ataxia
Spinocerebellar ataxia is an umbrella term for early-onset hereditary neurodegenerative diseases. They are characterized by features such as gait abnormalities, imbalance, and associated movement abnormalities including uncoordinated eye and paw movements, visual loss, seizures, and behavioral symptoms.
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Signs and symptoms
Signs of cerebellar disease include:
- An uncoordinated gait with stilted "toy soldier" leg movements (ataxia)
- Intention tremors where a stretched out limb or head shakes more and more violently as it approaches its target
- A swaying at rest, wherein the spine (and everything attached to it) moves back and forth in a struggle to maintain balance
- Rhythmic eye flicking (nystagmus) causing vision impairment.
Clinical signs of cerebellar dysfunction in affected dogs are typically observed when their normal littermates start to move in a coordinated fashion (at about three weeks of age).Uncover health risks with Embark
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Diagnosis
Unless a genetic basis is suspected due to the age, breed, or history of the dog, diagnostics must be performed to rule out infectious, inflammatory, or neoplastic causes.
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Treatment
There is no treatment for this disorder. Certain medications may be prescribed to control symptoms. However, owners often opt for euthanasia due to poor quality of life.
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What to do if your dog is at risk
Actions
- Give your dog any medication as prescribed by your veterinarian.
- Keep your affected dog comfortable and give them the best quality of life you can.
- Slings can be used to assist with their mobility, and caution should be taken to avoid falling hazards.
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Genetic Information
Known as the "oldest" part of the brain (even reptiles and more ancient species have them!), the cerebellum fine-tunes motor signals from the brain to the muscles, allowing for balance and coordination. When the cerebellum does not function properly, dogs become uncoordinated and do not have the ability to perform fine motor skills.
Spinocerebellar ataxia is recessive, that is, a dog requires two copies of the variant to show signs of the disease from the variant.
Gene names:
SCN8A Exon 27 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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