Hypophosphatasia in Dogs

Category: Bone & Joint
Inheritance: Autosomal recessive
Breeds documented: 1
Published sources: 3

Overview

Poor bone hardening is central to the inherited form of hypophosphatasia described in Karelian Bear Dog puppies. Researchers linked it to a change in ALPL, a gene involved in producing an enzyme needed for normal bone mineralization. Affected puppies failed to grow normally and could develop muscle weakness or difficulty walking. Some developed seizures very early in life. The reported disease varied between puppies but was severe.

Signs to watch for

Growing more slowly than littermates
Generalized muscle weakness
A crouched stance and difficulty walking
Seizures in very young puppies

Signs appeared in early puppyhood, with seizures as early as 2 weeks in reported cases.

Emergency Go to an emergency vet now if your puppy has a first seizure.

Diagnosis and tests

The published investigation combined physical examination, bone X-rays, blood tests, urine analysis and genetic testing. Blood testing showed unusually low activity of alkaline phosphatase, an enzyme involved in bone mineralization. A DNA test is available for the reported ALPL variant to support breeding decisions.

Breeds with documented risk

1 breed

By breed size

1 Medium

Karelian Bear DogMedium · Foundation Stock Service

Inheritance

Autosomal recessive
A dog is affected only if it inherits two copies of the gene variant, one from each parent. A dog with one copy is a carrier: usually healthy, but able to pass the variant on. When two carriers are bred, on average one puppy in four is affected. A DNA test can tell clear, carrier and at-risk dogs apart.
As stated by OMIA

We've gathered what published sources say about this condition, so you can talk it through with your vet. It isn't veterinary advice: you and your vet know your dog best.