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Chondrodystrophy (CDDY) & Intervertebral Disc Disease (IVDD) [RESEARCH ONLY]

Chondrodystrophy (CDDY) & Intervertebral Disc Disease (IVDD) [RESEARCH ONLY]

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Test Overview:

Chondrodystrophy in dogs is defined by dysplastic, shortened long bones and premature degeneration and calcification of intervertebral discs. This disease is therefore much more common in the chondrodystrophic breeds (that is short-legged breeds such as the dachshund, basset hound and corgi) and the dachshund accounts for 45 - 70% of all intervertebral disc disease (IVDD) in dogs. Chondrodystrophic breeds are prone to a type of disc degeneration called chondroid metaplasia, where the intervertebral discs in the spinal column become dried out, hardened and calcified at an early age. The discs are then less able to flex with movement, and more prone to bulging or rupture.  The calcified inner disc material puts pressure on the spinal cord, causing pain and damage to the nerves running through the spinal cord.  Severe pain to paralysis can occur, as well as inability to urinate or defaecate, and disc ruptures in the neck can cause respiratory paralysis and death. Signs of intervertebral disc rupture most commonly occur in chondrodystrophic breeds between 3-6 years of age.  Calcification of discs is generally apparent on x-rays by 2 years.  Ruptures can occur anywhere, but are more common in the upper back (65%), followed by the neck area (18%).  IVDD can occur in non-chondrodystrophic breeds as well, with the most commonly affected being German shepherd dogs, Labrador retrievers and Dobermanns.  In these breeds disc rupture tends to occur later, at around 8 years of age on average.  Obesity is also a major risk factor for IVDD. Disc rupture is generally suspected from clinical signs of severe pain or neurologic deficits, and is confirmed via myelography (injecting dye into the spinal canal which is then visible on x-ray) or MRI.  Plain x-rays are not diagnostic for disc rupture, however they may rule out other conditions.  In less severe cases treatment may be successful with medication, nursing and strict cage rest for a number of weeks.  With significant nerve deficits or any ongoing deterioration, surgical removal of the prolapsed disc is the treatment of choice. Recovery from surgery involves physiotherapy and good pain management, and if treated early the prognosis for IVDD is generally good.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

CFA12 FGF4, CFA18 FGF4

Variant Detected:

chr12:33710168-33710178 (canFam3): 3209 bp insertion with duplication (AAGTCAGACAGAG); chr18:20443725-20443726 (canFam3): ~5 kb insertion; chr18:48415661 (canFam3): G/A

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Dominant with Incomplete Penetrance

Research Citation(s):

Bannasch D, Batcher K, Leuthard F, Bannasch M, Hug P, Marcellin-Little DJ, Dickinson PJ, Drögemüller M, Drögemüller C, Leeb T. The Effects of FGF4 Retrogenes on Canine Morphology. Genes (Basel). 2022 Feb 10;13(2):325. [PubMed: 35205370] Batcher K, Dickinson P, Giuffrida M, Sturges B, Vernau K, Knipe M, Rasouliha SH, Drogemuller C, Leeb T, Maciejczyk K, Jenkins CA, Mellersh C, Bannasch D. Phenotypic Effects of FGF4 Retrogenes on Intervertebral Disc Disease in Dogs. Genes (Basel). 2019 Jun 7;10(6). pii: E435. doi: 10.3390/genes10060435. [PubMed: 31181696] Bellamy KKL, Lingaas F. Short and sweet: foreleg abnormalities in Havanese and the role of the FGF4 retrogene. Canine Med Genet. 2020 Dec 7;7(1):19. doi: 10.1186/s40575-020-00097-5. [PubMed: 33372642] Brown EA, Dickinson PJ, Mansour T, Sturges BK, Aguilar M, Young AE, Korff C, Lind J, Ettinger CL, Varon S, Pollard R, Brown CT, Raudsepp T, Bannasch DL. FGF4 retrogene on CFA12 is responsible for chondrodystrophy and intervertebral disc disease in dogs. Proc Natl Acad Sci U S A. 2017 Oct 24;114(43):11476-11481. doi: 10.1073/pnas.1709082114. [PubMed: 29073074] Dickinson PJ, Bannasch DL. Current Understanding of the Genetics of Intervertebral Disc Degeneration. Front Vet Sci. 2020 Jul 24;7:431. doi: 10.3389/fvets.2020.00431. eCollection 2020. [PubMed: 32793650] Fenn J, Olby NJ, and Canine Spinal Cord Injury Consortium (CANSORT-SCI). Classification of Intervertebral Disc Disease. Front Vet Sci. 2020 Oct 6;7:579025. doi: 10.3389/fvets.2020.579025. eCollection 2020. [PubMed: 33134360] Parker HG, VonHoldt BM, Quignon P, Margulies EH, Shao S, Mosher DS, Spady TC, Elkahloun A, Cargill M, Jones PG, Maslen CL, Acland GM, Sutter NB, Kuroki K, Bustamante CD, Wayne RK, Ostrander EA. An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science. 2009 Aug 21;325(5943):995-8. [PubMed: 19608863]

Associated Breed(s):

American Cocker Spaniel, Australian Cobberdog, Australian Labradoodle , Basset Hound, Beagle, Bichon Frise, Cardigan Welsh Corgi, Cavador, Cavalier King Charles Spaniel, Cavoodle, Chesapeake Bay Retriever , Chihuahua, Chinese Crested, Coton De Tulear, Dandie Dinmont Terrier, English Springer Spaniel, French Bulldog, Harlequin Pinscher, Havanese, Havanese Terrier Toy, Jack Russell Terrier, Labradoodle , Labradoodle Retrodoodle , Miniature American Shepherd, Miniature Australian Bulldog, Miniature Australian Shepherd, Miniature Fox Terrier, Miniature Pinscher , Miniature Poodle, Mixed Breed, Moodle, Nova Scotia Duck Tolling Retriever , Pekingese, Pembroke Welsh Corgi, Portuguese Water Dog, Scottish Terrier , Shih tzu, Spoodle, Toy Poodle,

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