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known genetic disorders in dachshunds
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Note: This page is incomplete!
The following list is ideally intended to be a complete and detailed list of and explanations of the genetic disorders known in dachshunds. Some of the information here can also be found in George A. Padgett's (DVM) book that is listed on my references page, but there are plenty more disorders that occur in the dachshund breed that are listed here, along with alternative names and acronyms some of the disorders are known by, as well as definitions, commentary, and example pictures.
If you have personal examples of any of these disorders that can be used to add facts to the list (such as, your dachshund became epileptic at a certain age that is not represented here), or if your dachshund has a disorder that is not listed here, I would appreciate it if you would drop me a line. Also, if you have a picture of one of these disorders occuring in a dachshund and I don't have a picture for it here yet, I would really appreciate it if you could send it to me. Thanks!
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abbreviations in the list
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mode of inheritance
R = recessive
D = dominant
ID = incompletely dominant
P = polygenic
X = sex-linked
U = undetermined; the mode of inheritance is currently unknown
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age of onset
< = under a given age
≤ = under or equal to a given age
> = over a given age
≥ = over or equal to a given age
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age of onset
y = year(s)
m = month(s)
w = week(s)
birth = present at birth
varies = time of onset varies
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alimentary (digestion)
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| acute hemorrhagic enteropathy / hemorrhagic gastroenteritis (HGE) | U, >4y
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| A sudden bleeding into the intestine, leading to bloody diarrhea, often along with hemoconcentration, vomiting, dehydration, anorexia, and/or depression. Often fatal.
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| gastric dilatation-volvulus (GDV) / bloat and gastric torsion | U, ≤7y
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| The stomach suddenly fills with air, which can make it difficult to breathe, swallow, and digest, and it can also cut off circulation. Usually fatal.
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| intestinal lymphangiectasia / idiopathic hypoproteinemia | R, ≤6m
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| The circulation of lymph fluid is blocked and leaks into the intestine, causing protein, fat, and general weight loss, and sometimes also swelling, breathing problems, and diarrhea.
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| megaesophagus (ME) / esophageal achalasia (EA) | U, <6m
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| The esophagus is dilated, and regurgitation occurs after attempting to swallow. In puppies it is usually genetic. In the cases where it arises in older dogs, the cause of it is idiopathic (unkown). It might be a manageable condition for awhile in some cases, but in most cases, there is no treatment or cure available. Puppies who have it are only expected to live a couple of years at the most. Death typically results from aspiration pneumonia.
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| sialocele (pl. sialoceles) / ranula (pl. ranulae) | U, <6y
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| A painful cyst that develops on a salivary gland under the tongue which can become infected. Occasionally sialoceles will dissolve with time, but usually they must be surgically removed, along with their respective damaged salivary duct(s) and gland(s).
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behavior
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| excessive aggressiveness | U, ≤3y
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| Excessive aggressive behavior with no obvious environmental or physical cause.
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cancer & neoplasm
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| histiocytoma / cutaneous hystiocytoma | P?, <4y
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my Ebony with a histiocytoma
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A histiocytoma is typically a singular, small, benign, painless growth that can occur at any age but usually occurs before a dog is about three or four years of age. They are often bright red, but they can be flesh-colored. Their growth is very rapid, and they nearly always appear on the front half of the body, most often on the face, the ears, the neck, or on top of the front feet. Most will resolve within a few weeks. The few that do not resolve on their own within a few months can be administered a topical medicine to help speed the process. Unless it should become infected, it is best, cheaper, and better-looking, to leave it and wait for it to resolve rather than have it removed.
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| mastosarcoma / mast cell tumors (MCTs) | U, <7y
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| Mast cells anywhere in the body that have become cancerous and profilic and which release chemicals into the body in excess, causing ulcerations and chemical damage. In later stages, weight loss and lethargy are common. Some mastosarcomas can be impossible to detect without a biopsy. Treatments can involve surgical removal of the tumor(s), radiation, and/or prednisone. Even with treatment, chance of recurrance is about 50%.
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cardiac & vascular (heart & circulation)
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| aberrant bronchoesophageal branch | U, birth?
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| patent ductus arteriosus (PDA) | P, birth
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| persistent right aortic arch (PRAA) / vascular ring anomaly (VRA) | P, birth
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| Instead of, during fetal development, the left aortic arch developing into the aorta, the right aortic arch does instead. The resulting ring of blood vessels traps the esophagus and sometimes also the trachea, putting pressure on it/them, which can cause regurgitation and aspiration pneumonia.
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| reverse sneezing | U, varies
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| A dog that will "usually turn [its] elbows outward and extend [its] neck while gasping inwards with a distinctive snorting sound" and "appear[s] to be struggling to breathe", then the event ceases and the dog seems normal again, is experiencing a spasm called "reverse sneezing", "backward sneezing", "backwards sneezing". [...] "Once the attack ceases, all goes back to normal." "It actually has nothing to do with sneezing, but is a spasm caused by an irritation of the nasopharynx / soft palate. (The soft palate is a soft, fleshy tissue extension off the hard palate, or roof of the mouth.) Small dogs in particular can exhibit this behavior and certain breeds may be predisposed to it." "Some [...] can have this condition for their entire lives, or it may develop as the dog ages." "It has sent many a distraught owner to the vet in panic." [...] "If your dog experiences this behavior fairly frequently and the episodes are severe, a trip to the vet is in order to determine other possible causes, which can include [nasal irritants such as dust, pollen, or household chemicals], viral infections, polyps, excessive soft palate tissue, and nasal mites[; however, some] cases of reverse sneezing are idiopathic, which means there is no identifiable cause." While it may seem scary to the owner when it happens, reverse sneezing is basically harmless, although surely it's an irritant to the dog.
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| The information in quotes was written by Jennifer Fry, DVM and Holly Frisby/Nash, DVM, MS.
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| sick sinus syndrome (SSS) / sinoatrial syncope / sinoatrial arrest | U, <1y
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| A disturbance in the normal heart rhythm. The arrhythmias may cause weakness or fainting. Treatments are available.
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| subaortic stenosis (SS) / subvalvular aortic stenosis (SAS) | P, <1y
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| A heart murmur caused by lesions in the aortic valves, which cause the valves to tighten and disrupt the outflow of blood.
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endocrine (hormones)
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| hyperadrenocorticism / Cushing's Syndrome / Cushing's Disease | U, <8y
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| The excess production of the hormone cortisol, sometimes due to a tumor in the adrenal gland. There is typically an increase in eating, drinking, and urination, leading to obesity, and later there can be muscle weakness, thinning hair, and skin problems. If a tumor is not the cause, then there is no cure, but treatment is available. If a tumor is the cause, the tumor can be removed.
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| hypothyroidism | U, <2y
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| A decrease in thyroid hormone activity, usually due to atrophy of the thyroid gland or replacement of the thyroid gland by lymph cells. There is no cure. Treatment is available.
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hearing/balance
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| parti-color-related hearing deficiency / parti-color-related hearing deafness | R+P, <3m
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| Occurs on dogs who are parti-color-patterned (generally piebalds, extreme white, and mixes thereof). If the skin in his inner ear is unpigmented, the affected nerve endings there will atrophy and die after a few weeks of age.
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| double-dapple-related hearing deficiency / double-dapple-related deafness | D[+P?], <3m
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| Occurs on dogs who are dapple-patterned and double dapple-patterned. If the skin in his inner ear is unpigmented or very diluted, the affected nerve endings there will atrophy and die after a few weeks of age.
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| other deafness | U, <6m
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| Deafness or hearing deficiency that occurs for no known reason.
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hematopoietic/lymphatic (red & white blood cells)
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| hemophilia A / factor VIII deficiency | X-R, <1y
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| Prolonged bleeding of moderate severity due to the lack of a clotting protein (the factor VIII protein). There is no cure. Treatment is available.
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| pyruvate kinase deficiency (PK/PKD) | R, ≤1y
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| Severe hemolytic anemia, lethargy, and exercise intolerance due to the premature death of red blood cells from the lack of an enzyme the cells need to produce energy. Progressive myelofibrosis and osteosclerosis as well as liver failure typically cause death by four years of age. There is no cure.
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| von Willebrand's disease (Type I / Type 1) | R, <1y
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| A type of hemophilia. Prolonged bleeding as well as chronic bleeding of mucous membranes and skin due to the lack of a clotting protein (one of the three vWD proteins). There is no cure. Treatment is available.
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immune
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| atopic dermatitis | U, <1y
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| common variable immunodeficiency (CVID) / hypogammaglobulinemia | U, birth
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| There are low IgA, IgG, IgM (immunoglobulin) antibody levels and recurrent pneumocystis (bacterial) infections in the ears, sinuses, and lungs. There is no cure. Treatment is available, as long as too much damage has not already occurred to the lungs.
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| cutaneous vasculitis | U, <2y
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| demodicosis | U, <1y
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| idiopathic thrombocytopenic purpura | U, <10y
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| selective IgA deficiency | U, birth
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| There are low IgA antibody levelsand recurrent pneumocystis (bacterial) infections in the ears, sinuses, and lungs. There is no cure. Treatment is available, as long as too much damage has not already occurred to the lungs.
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| systemic lupus erythematosus (SLE) | U, <9y
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integumentary (skin & membranes)
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| acanthosis nigricans | U, <1y
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| The skin on one or more parts of the body (usually the underarms or groin) darkens, thickens, and loses hair. Secondarily a bacterial infection, causing itching, can result. Incurable.
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| black hair follicular dysplasia (BHFD) | R, <4m
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| If the dog's coat is supposed to be black, it may look a dull grey or blue instead. The black hairs will be brittle, and all will eventually fall out and not regrow. The skin will be dry, scaly, wrinkled, and sometimes bumpy. A biopsy or genetic test is generally needed to definitively diagnose BHFD. There is no cure.
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| butterfly nose or dudley nose | ID or R, <1y
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| dudley nose | ID, R, and U, <1y
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| collagen disorder of the footpads | U, <4y
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| color dilution alopecia (CDA) | R, ≤4y
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| ear margin dermatosis of dachshunds | U, <2y
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| Ehlers-Danlos syndrome / cutaneous asthenia / dermatosparaxis | D, <10w
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| follicular dysplasia (FD) | U, variable
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| growth hormone responsive dermatosis | U, <2y
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| inguinal hernia | R+P, <3m
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| juvenile pyoderma / juvenile cellulitis / puppy strangles | U, <1y
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| onychodystrophy | U, <5y
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| pattern baldness | U, <2y
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| pemphigus erythematosus | U, ≤4y
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| pemphigus foliaceus | U, ≤4y
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| pemphigus vulgaris | U, <2y
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| perineal hernia | U, <8y
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| pinnal alopecia | U, <2y
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| primary seborrhea | U, <1y
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| can lead to seborrheic dermatitis
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| seasonal flank alopecia (SFA) | U, <5y
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| sebaceous adenitis (SA) | U, <1y
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| umbilical hernia | R or P, <6m
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| vitiligo | U, ≤3y
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liver/pancreas
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| chronic active hepatitis | U, <5y
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| diabetes mellitus | U, <3y
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| portosystemic shunt (extraepatic) | U, <1y
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| portosystemic shunt (intrahepatic) | U, <1y
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muscular
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| myotonia | R, <6m
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| A form of muscular dystrophy, where muscles are unable to relax after being contracted. There is no cure. Treatment is available.
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neurologic (brain)
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| neuronal ceroid-lipofuscinosis / ATP subunit C storage - adult-onset (NCL-AO) | R, >5y
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| Progressive loss of night vision followed by blindness and neurological deficits.
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| neuronal ceroid-lipofuscinosis / ATP subunit C storage - juvenile-onset (NCL-JO) | R, >1y
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| Progressive loss of night vision followed by blindness and neurological deficits.
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| congenital myasthenia gravis | R, <6m
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| epilepsy / progressive myoclonic epilepsy / Lafora Disease / Lafora's Disease | R, >1y
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| Seizures occur intermittently and are often violent. There seem to be more males affected than females. Can be fatal. There is no cure. The damaged DNA causing epilepsy has been found on chromosome 35, gene Epm2b (Nhlrc1).
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| narcolepsy (cataplexy) | R, often around 3y or 4y, but can be ≥3m and ≤10y
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| There are sudden episodes of total collapse as well as excess daytime sleepiness. The damaged DNA causing narcolepsy has been found on chromosome 12, gene Hcrtr2 (hypocretin receptor 2).
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| sensory neuropathy | R, >6m
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| spinal muscular atrophy | U, <8m
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| white shaker dog syndrome | U, <2y
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ocular (eyes)
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| anophthalmia | R, birth
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R.C. with anophthalmia
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Anophthalmia is the absence of one or both eyes and is fairly rare.
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| cataracts | R?, <1y or varies
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| The lens becomes partially or wholly cloudy, in a white, bluish-white, or gray color. Blindness in an eye will result when a lens becomes wholly opaque. Surgery to remove the lens is possible, but otherwise there is no treatment.
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| collie eye anomaly | R, birth or <2y
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| The abnormal development of the choroid, retina, sclera, and/or optic nerve. The condition can be mild or severe, and in severe cases, blindness results.
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| corneal dystrophy | U, varies
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| degenerative pannus / Uberreiter’s Disease / chronic superficial keratitis / interstitial keratitis / superficial stromal keratitis | R, ≤1y
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| Bilateral grayish vascularized growth over/of the corneas that obscures vision. Painful ulceration may also be present. Degenerative pannus can be caused genetically or by injury or infection. Treatments are available, but there is no cure short of removing the eyes.
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| corneal erosion syndrome (boxer ulcers) | U, ≤6y
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| dermoid | U, <1y
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| A patch of skin that develops on the cornea or conjunctiva. Vision is lost where they are located, and they can also cause irritation. Surgical removal is possible.
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| distichiasis | U, <6m
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| eccentric pupil / dropped pupil | U or ID, birth
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| A pupil that is not centered in the eye. Usually caused by faulty dappling alleles.
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| ectopic cilia (aberrant cilia) | U, birth
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| endothelial dystrophy / corneal endothelial dystrophy | U, birth or <1y
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| Aqueous humor leaks into the inner layer (endothelium) of the cornea, and that causes it to swell and look bluish. Progression is quick and can lead to blindness and sometimes painful ulcers. Usually bilateral, although not necessarily symmetrical. There is no cure. Minimal treatment is available.
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| entropion | U, <1y
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| The eyelid (either upper, lower, or both) rolls inward, irritating/scraping/eroding the eye's surface. Usually bilateral. Surgical correction is possible.
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| glaucoma (narrow-angle glaucoma) | U, <9y
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| When the pressure inside the eye increases to the point that the structures and function of the eye are damaged and pain results. If caught and treated early, vision can be saved; otherwise, blindness will occur, and the affected eye(s) may need to be removed to take away the pain.
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| imperforate lacrimal punctum (epiphora) | U, <1y
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| iris hypoplasia / iris coloboma / coloboma iridis / cleft iris | U or ID, birth
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An incomplete closure of the iris, giving the pupil a keyhole appearance. Because part of the iris is missing, often the iris cannot open and close properly, which leads to squinting and impaired vision in bright light. The color of the iris is irrelevant; coloboma iridis can occur in any dog of any eye color and any coat color or pattern. But, in many/most cases, it is caused by faulty dappling alleles.
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| irregular pupil | U or ID, birth
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| A pupil that is not circular; one that is irregular in shape and may look like it has a torn/jagged edge to it. Usually caused by faulty dappling alleles.
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| keratoconjunctivitis sicca (KCS) | U, <1y
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| lens luxation | R?, <1y
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| microphthalmia | D?[+M?], birth
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H2K Dachshunds
double dapple w/bilateral microphthalmia & permanently visible third eyelids
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Eyes are smaller than normal. Not terribly uncommon. In many cases of double dapples with microphthalmia, the eye is so small that the third eyelid permanently covers it.
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| optic nerve hypoplasia | U, <3m
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| persistent pupillary membranes (PPM, mesodermal dysgenesis) | D?, <3m
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| primary retinal detachment | U, varies
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| progressive retinal atrophy (PRA) | U, varies
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| starburst pupil / sunburst pupil | U or ID, birth
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| A pupil that is not circular; one that has a starburst shape, as if it has rays extending out from it. Because the iris is oddly structured, it cannot open and close properly, which leads to squinting and impaired vision in bright light. Usually caused by faulty dappling alleles.
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| trichiasis | U, <3m
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| uveodermatologic syndrome (UDS, VKH) | U, <3y
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reproductive
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| cryptorchidism | X-R, <3m
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| Failure of both testicles to descend and stay descended, causing the dog to be infertile. If the undescended testicles are not removed (via neutering), the risk of testicular cancer, neoplasia, and torsion greatly increases.
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| dystocia | U, giving birth
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| Any of various serious problems the dam can have while whelping. Treatments are available.
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| monorchidism | X-R, <3m
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| Failure of one testicle to descend and stay descended, causing the dog to be lacking in fertility. If the undescended testicle is not removed (via neutering), the risk of testicular cancer, neoplasia, and torsion greatly increases.
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skeletal (bones)
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| anury | R? and/or D?[+M?], birth
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| The lack of a tail and often lack of some hind musculature.
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| brachury | R, birth
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| An abnormally short tail (bob tail).
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| cleft lip | U, birth
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| cleft palate | U, birth
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| dachshund dwarfism | R?, <1m
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| Dachshund dwarfism is very similar to but not the same disorder as achondroplasia in humans.
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| elbow luxation - nonfusion of the anconeus / ununited anconeal process (EL-UAP) | U, ≤1y
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| elbow luxation - osteochondritis dissecans (EL-OCD) | U, ≤1y
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| hemivertebra (HV) | U, <1y
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| hip dysplasia (HD) | R+P, <2y
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| intervertebral disc disease (IVDD or IDD) | U, >1y
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| One or more discs in the vertebra herniates and presses on the spinal cord, causing temporary or permanent: minor or major pain, limb weakness, paralysis, and/or incontinence. Surgery is required and may or may not be successful.
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| Legg-Perthes disease (LPD) / Legg-Calvé-Perthes disease (LCPD) | P, <1y
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| Over the course of about a month, the top of one of the femurs will die (necrosis) and regrow (ossification), causing lameness and severe pain in that leg. Surgery is successful.
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| patellar luxation (PL) | R+P, <1y
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| Improper alignment of leg bone structures that cause the kneecap to slip/pop out of place, resulting in pain, swelling, lameness. It costs about $1,000 per leg to fix the problem after the dog starts limping. But if the surgery is not done in time, he may need his patellarly-luxated leg(s) amputated.
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| otocephalic syndrome | R, <1y
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| overshot jaw / overbite | U (R?), <1y
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| The lower jaw is shorter than the upper jaw, giving the teeth an improper upper/lower alignment (a non-scissors alignment).
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| spondylosis deformans | P, >1y
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| undershot jaw / underbite | P (R?), <1y
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| The lower jaw is longer than the upper jaw, giving the teeth an improper upper/lower alignment (a non-scissors alignment); the lower front teeth are situated in front of the upper front teeth.
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| wobbler syndrome / cervical vertebral instability (CVI) | P, ≤1y
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| The very same thing as intervertebral disc disease, but in the neck region of the spine.
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urinary
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| cystinuria (renal tubular transport defect) | X-R, <1y
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| renal dysplasia | U, <1y
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| uroliths / calculi | U, <9y
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| The formation of stones, either struvite (much more common), urate, or cystine (much less common), in the urinary tract. The condition can be painful, and the lifespan of the dog is decreased significantly because kidney failure results. Treatment may be possible.
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