Another Name: Kartagener Syndrome
Disease Description: Congenital trait in several breeds where all ciliated cells (those with hairs or moving appendages) are deformed and rigid. Also called immotile cilia syndrome and Kartagener's syndrome. Causes chronic pneumonia and sterility. Common in bichon frise and Doberman pinschers.
Inherit Mode: -
Disease Symptom: Symptoms of ciliary dyskinesia include mucus discharge from the nose, coughing, sneezing and frequent respiratory infections. Ciliary dyskinesia is seen only in purebred dogs. Breeds include bichon frises, border collies, bull mastiffs, Chihuahuas, chow chows, cocker spaniels, Dalmatians, Doberman pinschers, English setters, golden retrievers, Gordon setters, long-haired dachshunds, miniature poodles, Old English sheepdogs, Newfoundlands, rottweilers, Shar-Peis, springer spaniels, pointers and Staffordshire bull terriers.
Disease Cause: -
Disease Diagnose: -
Treat Method: If your veterinarian suspects ciliary dyskinesia, a mucus biopsy and an analysis of ciliary beat frequency are necessary to confirm diagnosis. The condition has no treatment or cure, but standard regimens of antibiotics are sometimes necessary to treat secondary infections like bacterial rhinosinusitis, bronchopneumonia and ear infections.
Breeder Advice: -
Disease Description Source: Link
| Disease Name | Other Name | Mode of inheritance | Link ID | Possible OMIM ID | Gene |
|---|---|---|---|---|---|
| Ciliary dyskinesia, primary | Primary ciliary dyskinesia | Autosomal Recessive | CCDC39 NAT10 |
| 2021 |
Hedgespeth,B.A.,Birkenheuer,A.J.,Friedenberg,S.G.,Olby,N.J.,Meurs,K.M.: :
A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections. J Vet Intern Med :, 2021. Pubmed reference: 33755251 . DOI: 10.1111/jvim.16100 . |
| 2019 |
Anderegg,L.,ImHofGut,M.,Hetzel,U.,Howerth,E.W.,Leuthard,F.,Kyöstilä,K.,Lohi,H.,Pettitt,L.,Mellersh,C.,Minor,K.M.,Mickelson,J.R.,Batcher,K.,Bannasch,D.,Jagannathan,V.,Leeb,T.: :
NME5 frameshift variant in Alaskan Malamutes with primary ciliary dyskinesia. PLoS Genet 15:e1008378, 2019. Pubmed reference: 31479451 . DOI: 10.1371/journal.pgen.1008378 . |
| 2014 |
Merveille,A.C.,Battaille,G.,Billen,F.,Deleuze,S.,Fredholm,M.,Thomas,A.,Clercx,C.,Lequarré,A.S.: :
Clinical findings and prevalence of the mutation associated with primary ciliary dyskinesia in old english sheepdogs. J Vet Intern Med 28:771-8, 2014. Pubmed reference: 24773602 . DOI: 10.1111/jvim.12336 . |
| 2011 |
Merveille,A.C.,Davis,E.E.,Becker-Heck,A.,Legendre,M.,Amirav,I.,Bataille,G.,Belmont,J.,Beydon,N.,Billen,F.,Clément,A.,Clercx,C.,Coste,A.,Crosbie,R.,deBlic,J.,Deleuze,S.,Duquesnoy,P.,Escalier,D.,Escudier,E.,Fliegauf,M.,Horvath,J.,Hill,K.,Jorissen,M.,Just,J.,Kispert,A.,Lathrop,M.,Loges,N.T.,Marthin,J.K.,Momozawa,Y.,Montantin,G.,Nielsen,K.G.,Olbrich,H.,Papon,J.F.,Rayet,I.,Roger,G.,Schmidts,M.,Tenreiro,H.,Towbin,J.A.,Zelenika,D.,Zentgraf,H.,Georges,M.,Lequarré,A.S.,Katsanis,N.,Omran,H.,Amselem,S.: :
CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet 43:72-8, 2011. Pubmed reference: 21131972 . DOI: 10.1038/ng.726 . |
| 2008 |
Cavrenne,R.,DeBusscher,V.,Bolen,G.,Billen,F.,Clercx,C.,Snaps,F.: :
Primary ciliary dyskinesia and situs inversus in a young dog. Vet Rec 163:54-5, 2008. Pubmed reference: 18621999 . |
| 2004 |
DeScally,M.,Lobetti,RG.,VanWilpe,E.: :
Primary ciliary dyskinesia in a Staffordshire bull terrier. J S Afr Vet Assoc 75:150-2, 2004. Pubmed reference: 15628808 . |
| 2000 |
Clercx,C.,Peeters,D.,Beths,T.,McEntee,K.,Votion,D.,Snaps,F.,Henroteaux,M.,Jorissen,M.: :
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog Journal of the American Veterinary Medical Association 217:1681-1685, 2000. Pubmed reference: 11110460 . |
| 1999 |
Watson,P.J.,Herrtage,M.E.,Peacock,M.A.,Sargan,D.R.: :
Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 144:718-+, 1999. Pubmed reference: 10423815 . |
| 1998 |
Watson,P.J.,Herrtage,M.E.,Sargan,D.: :
Primary ciliary dyskinesia in Newfoundland dogs Veterinary Record 143:484, 1998. Pubmed reference: 9829312 . |
| 1992 |
Edwards,DF.,Patton,CS.,Kennedy,JR.: :
Primary ciliary dyskinesia in the dog. Probl Vet Med 4:291-319, 1992. Pubmed reference: 1643316 . |
| 1991 |
Maddux,J.M.,Edwards,D.F.,Barnhill,M.A.,Sanders,W.L.: :
Neutrophil Function in Dogs with Congenital Ciliary Dyskinesia Veterinary Pathology 28:347-353, 1991. Pubmed reference: 1750159 . |
| 1989 |
Edwards,D.F.,Kennedy,J.R.,Patton,C.S.,Toal,R.L.,Daniel,G.B.,Lothrop,C.D.: :
Familial Immotile-Cilia Syndrome in English Springer Spaniel Dogs American Journal of Medical Genetics 33:290-298, 1989. Pubmed reference: 2801763 . DOI: 10.1002/ajmg.1320330303 . |
| 1987 |
Killingsworth,CR.,Slocombe,RF.,Wilsman,NJ.: :
Immotile cilia syndrome in an aged dog. J Am Vet Med Assoc 190:1567-71, 1987. Pubmed reference: 3610767 . |
| 1987 |
Morrison,WB.,Frank,DE.,Roth,JA.,Wilsman,NJ.: :
Assessment of neutrophil function in dogs with primary ciliary dyskinesia. J Am Vet Med Assoc 191:425-30, 1987. Pubmed reference: 3654315 . |
| 1987 |
Morrison,WB.,Wilsman,NJ.,Fox,LE.,Farnum,CE.: :
Primary ciliary dyskinesia in the dog. J Vet Intern Med 1:67-74, 1987. Pubmed reference: 3506090 . |
| 1984 |
Afzelius,BA.,Carlsten,J.,Karlsson,S.: :
Clinical, pathologic, and ultrastructural features of situs inversus and immotile-cilia syndrome in a dog. J Am Vet Med Assoc 184:560-3, 1984. Pubmed reference: 6706800 . |
| 1984 |
Conner,MW.,Davies,P.: :
Immotile ciliary syndrome in dogs. J Am Vet Med Assoc 184:624-6, 1984. Pubmed reference: 6233247 . |
| 1984 |
Randolph,J.F.,Castleman,W.L.: :
Immotile cilia syndrome in two Old-English sheep dog littermates J. Small Anim. Pract. 25:679–686, 1984. |
| 1983 |
Edwards,DF.,Patton,CS.,Bemis,DA.,Kennedy,JR.,Selcer,BA.: :
Immotile cilia syndrome in three dogs from a litter. J Am Vet Med Assoc 183:667-72, 1983. Pubmed reference: 6629977 . |