Lagotto Storage Disease
This form of lysosomal storage disease arises from a defect in the enzyme ATG4D, which plays a large role in the autophagy pathway. Autophagy describes the process by which the cell recycles damaged or malfunctioning parts of itself including old transport vesicles, organelles, and macromolecules. Loss of ATG4D stops the autophagy pathway in its tracks, causing cellular accumulation of old parts and eventual cellular malfunction and death.
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Signs and symptoms
Ataxia, behavioral changes, and abnormal eye movements can be seen with this disorder.
Signs can have a juvenile (4 months) to adult (4 years) onset.Uncover health risks with Embark
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Diagnosis
Genetic and laboratory testing used to diagnose this disease.
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Treatment
There is no treatment except supportive care for the clinical signs the affected dog develops.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s Lagotto storage disease result so you can work together to plan ongoing care and monitoring.
- Schedule regular checkups to monitor for changes in mobility, coordination, or behavior.
- Work with your vet to provide supportive care that keeps your dog comfortable and helps them stay active and engaged.
- Help your dog feel secure by keeping furniture in familiar places, using non-slip mats, and maintaining predictable daily routines.
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Genetic Information
This mutation was first described in the Lagotto Romagnolo.
This mutation is inherited in an autosomal recessive manner; that is, a dog requires two copies of the mutation to show signs of the disease.
Gene names:
ATG4D (Exon 10) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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