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
- Owners should consult with their veterinarian about their dog's quality of life. Due to the severity of the disease, most dogs are euthanized between a few weeks to a few months of age.
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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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