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Osteogenesis Imperfecta (Chow Chow)

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Description:

Osteogenesis Imperfecta (OI) or Brittle-bone Disease is an inherited autosomal recessive disease often diagnosed at a young age. The genetic mutation impairs the normal development of collagen, which causes bones and teeth to be thin and brittle. Although bones are of normal length, they can break or fracture easily due to low bone density. Once an injury occurs, healing can be slow or incomplete.

 

In addition to brittle teeth and bone fractures, symptoms of OI can also include loose joints, weak muscles and tendons, a curved spine, and hearing loss. In severe cases, dogs with OI will have to be euthanized. There is no cure for OI, but with proper care and caution some dogs can still have decent quality of life.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

COL1A2

Variant Detected:

c.936+1G>A

Severity:

It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

J Hered. 2018 Mar 16;109(3):308-314

Associated Breed(s):

Chow Chow, Mixed Breed,

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