Hypophosphatasia
Hypophosphatasia (HPP) is a metabolic bone disease characterized by defective skeletal mineralization and is caused by mutations in the alkaline phosphatase gene (ALPL).
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Signs and symptoms
Affected dogs may exhibit a crouched stance, reluctance to move, generalized muscle weakness, deformed joints, and hyperextension of the wrist and ankle joints. Seizures may be observed.
Puppies are affected from birth. This disease is typically diagnosed in young puppies from birth to a few months of age.Uncover health risks with Embark
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Diagnosis
Hypophosphatasia is diagnosed through clinical history, genetic testing, X-rays showing decreased mineralization of the bone, and certain blood chemistry abnormalities.
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Treatment
Hypophosphatasia cannot be treated. Keeping your affected dog comfortable and giving them the best quality of life you can are the only actions you can take at home.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s hypophosphatasia result so you can discuss what signs to monitor for and how to keep your puppy as comfortable as possible.
- This condition is severe and often affects puppies within the first few weeks of life, leading to weakness, bone pain, and difficulty nursing or moving.
- Provide a warm, quiet environment with soft bedding and gentle handling to minimize discomfort.
- Your vet can help guide decisions focused on comfort and quality of life based on your puppy’s individual needs.
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Genetic Information
This variant was first identified in the Karelian Bear Dog.
HPP is inherited in an autosomal recessive manner, meaning a dog must have two copies of the variant to be affected by it.
Gene names:
ALPL Exon 9 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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