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.

  • 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

    Embark Breed + Health Test

    Original price:


    Sale price:



    Embark for Breeders Dog DNA Test

    $129 - $159


  • Diagnosis

    Genetic and laboratory testing used to diagnose this disease.

  • Treatment

    There is no treatment except supportive care for the clinical signs the affected dog develops.

  • What to do if your dog is at risk


    • Focus on palliative therapies to increase your dog's comfort and quality of life.

  • 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) ‐ chr20

    Inheritance type:


  • Breeds affected

    This health condition affects the following breeds

Learn about your dog’s unique genetic health

Dog owners

Breed identification, health and trait insights, personalized care recommendations, and the world’s first canine relative finder—all in one leading dog DNA test.

Learn about the report for dog owners
Shop the test
Breeding programs

Embark’s test for breeding programs is one comprehensive DNA test designed with your needs in mind.

Learn about the report for breeders
Shop the test