Early Onset Cerebellar Ataxia
Known as the "oldest" (even reptiles and more ancient species have them!) part of the brain, 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.
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Signs and symptoms
Signs of cerebellar disease include: dogs have an uncoordinated gait (ataxia) with stilted "toy soldier" leg movements. They can display "intention tremors," where a stretched out limb or head shakes more and more violently as it approaches its target. At rest, dogs sometimes display a "truncal sway;" their spinal muscles have lost their fine-tuning, pulling the spine (and everything attached to it) back and forth in a struggle to maintain balance. The muscles of the eyes have also lost this fine-tuning, leading to a rhythmic eye flicking (nystagmus).
Cerebellar symptoms arise when puppies are about 3 months old and rapidly worsen. -
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
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
- Keeping your affected puppy comfortable and giving them the best quality of life you can are the only actions you can take at home.
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Genetic Information
A single mutation in the SEL1L gene has been identified in Finnish Hounds with early onset progressive cerebellar ataxia. SEL1L plays a role in protein quality control: like most cellular processes, mistakes can be made in protein production. clearly, misassembled or folded proteins are recognized and degraded in a cellular structure known as the endoplasmic reticulum. In the absence of SEL1L, abnormal proteins build up, interfering with normal cellular pathways and causing cellular dysfunction and death. The cerebellum is profoundly affected by this defect and is the first organ to show signs of malfunction.
This disease is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
SEL1L ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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