Genetic Diseases Affecting GSPs

(As noted in Control of Canine Genetic Diseases by Dr. George A. Padgett unless otherwise stated; Wilcox is Dr. Bonnie Wilcox, DVM, author of Successful Dog Breeding and herself a GSP breeder; Canine Inherited Diseases Database is a joint initiative of the Sir James Dunn Animal Welfare Centre at the Atlantic Veterinary College, University of Prince Edward Island, and the Canadian Veterinary Medical Association.)

 

 

It is my belief that any “breeder” who does not take advantage of every available test in an effort to ensure that the stock they are breeding is free of genetic problems doesn’t deserve the name “breeder” and should instead be doing something else with their ‘hobby time’ less damaging to a living being.   In my particular breed, it is unbelievable to me that there are still people taking the heads-in-sand approach and thinking that if they don’t know a problem may be lurking then it won’t eventually catch up with them.  They may be right in that the problem may not occur in their dogs, but instead will become someone else’s problem.  As unbelievable as it may seem, a few choice individuals have even said that it doesn’t matter if something comes up after the dog is sold because by then the new owners will love the puppy and do everything possible to help it.  Unfortunately, some of these diseases cannot be cured or the pain even alleviated regardless of how much love is outpoured.  What is needed are people who are dedicated to the preservation and future of their breed to the exclusion of their own egos.  Nothing is gained and everything potentially endangered by those who fail to do even the most elementary of tests – hips, eyes, vWD and heart. 

 

You be the judge – should those who breed dogs and pass them on to a sometimes uneducated public be ethically required to ensure that the stock being bred is as genetically free of defects as possible?   Where will you stand when the breeders are divided into the groups of test and test not (or care and care not)?  Will YOU be able to look yourself in the mirror and state that you had done everything possible to ensure your stock is healthy and free of genetic defects when you get the call that one of the puppies you produced has just been given a death sentence diagnosis of severe subaortic stenosis or crippling hip dysplasia? 

 

Don’t be an ostrich – be proactive and admit to problems in the belief that other ethical breeders will use the information to slow and possibly eradicate the genetic problems.  I wish you all sane, safe , and ethical breeding practices!

 

 

 

Mode of Inheritance

Age of Onset

Alimentary Diseases:

 

Gastric Dilation-Volvulus (Bloat and Gastric Torsion):  Distension & twisting of the stomach, resulting in discomfort, vomiting & ineffectual retching.  Death is common. Seen in large, giant, deep-chested breeds.

Undetermined

Under 7 years

Endocrine Diseases:

 

Hypothyroidism (Autoimmune Thyroiditis, Hashimoto’s Disease, Lymphocytic Thyroiditis):  Destruction of the thyroid gland due to an attack from the animal’s own immune system.  Causes rough, scaly skin; hair loss and weight gain.

 

 

Undetermined

Under 2 years

Primary Hypoadrenocorticism (Addison’s Disease):  Clinically, dogs show poor appetite, vomiting & lethargy.  There may be shaking, weight loss and diarrhea.  This disorder tends to come and go.  Hypothermia, weakness and collapse may occur. 

Undetermined

Under 5 years

Hematopoietic and Lymphatic Diseases:

 

Factor XI Deficiency:  A missing component in the blood causing mild bleeding, which can be severe after trauma or surgery and can cause death, but usually doesn’t. 

Incomplete Dominance

 

Autosomal Dominant; incomplete penetrance (Wilcox)

 

Under 3 months

Factor XII Deficiency (Hageman’s Disease):  There is no bleeding tendency with this trait, individuals may show a higher than normal tendency for thrombosis and infection. 

Undetermined

birth

Hemophilia A:  Absence of factor VIII in the blood causing prolonged and excessive bleeding due to failure to form a clot.  Affected dogs may die. 

Sex-linked recessive

Birth

Hemophilia B (Christmas Disease):  Absence of factor IX in the blood causing prolonged & excessive bleeding due to failure to form a clot.  Affected dogs may die. 

 

Sex-linked Recessive

Birth

Lymphedema:  A pitting edema of the extremities and ventral trunk, effusions of the abdominal or pleural cavities may occur. 

 

Autosomal Dominant

Under 1 Year

Thrombopathia:  Abnormality in the structure of blood platelets (giant platelets), causing clotting problems and minor bleeding. 

 

Incomplete Dominant

Autosomal dominant; incomplete expression (Wilcox)

 

Under 3 Months

Von Willebrand’s Disease:  Reduced factor VIII in the blood, resulting in a prolonged bleeding time, may be mild, moderate or severe and can cause death.  GSPs are effected by Type II which is not defined by DNA profiling. 

 

 

Incomplete Dominant

Under 1 Year

Heart and Vascular Diseases:

 

Subaortic Stenosis:  A narrowing at the base of the aorta as a result of a fibrous band, causing murmurs, weakness and sudden death.  (Interesting to note that Malcolm Willis referred to this in his book, Genetics of the Dog, published in 1989 by referring to a study where it was first noted in 1973.)

 

Polygenic

Under 1 Year

Immune System Diseases:

 

Atopic Dermatitis:  Roughened, itchy, oozing skin caused by immune reactions to various allergens, such as fleas or pollen. 

 

Undetermined

Under 1 year

Demodicosis:  A localied Demodex infection that usually results in a mild erythema and may develop into some form of alopecia.  Pruritus may or may not be present.  These are most commonly seen on the face, and usually there is spontaneous recovery within 6-8 weeks.  This is not considered to be hereditary.  A generalized demodicosis usually develops as a chronic dermatitis with crusting, scaling and hyperpigmentation.  There may be intense pruritus and a secondary pyoderma.  Folliculitis, cellulites, furunculosis and seborrhoea may occur.  A susceptibility and predisposition to Demodex canis is thought to be based on a T-cell disturbance.  Generalized demodicosis is considered to be inherited. 

 

Undetermined

Under 1 Year

Discoid Lupus Erythematosus (DLE):  Typically, a benign skin disorder with no general involvement.  Changes include scaling, erythema & loss of pigment of the nose.  Erosions, ulceration and crusting may occur.  Lesions may also develop in the eye and ear area. 

 

Undetermined

Varies

Polygenicarteritis Nodosa (Beagle Pain Syndrome, Meningitis-Vasculitis, Steroid-Responsive Meningitis-Arteritis, SRMA):  Immune mediated vascular leasions in the meningeal and coronary arteries lead to typical neurologic and cardiac signs, such as chronic fever, anorexia, stiff neck and para- or tetraplegia. 

 

Undetermined

Under 2 Years

Integumentary Diseases:

 

Acne (Muzzle Folliculitis and Furunculosis):  Follicular papules of various sizes, which are generally hairless.  Papules may ulcerate and produce a purulent exudates. 

 

Undetermined

Under 1 Year

Acral Mutilation Syndrome (Idiopathic Self-Mutilation, Psychogenic Alopecia and Dermatitis):  If the dog is left alone too often and has no positive energy outlet, it may lead to the dog obsessively licking and/or chewing the skin of the distal extremities. 

 

Undetermined

Varies

Alopecic Syndromes:  Clinically, hair tends to thin and be lost with little or no scaling or any inflammatory changes.  Distribution of loss varies.  Hyperpigmentation may occur.  GSPs are effected with Follicular Dysplasia. 

 

Undetermined

Varies

Epidermolysis Bullosa The term epidermolysis bullosa refers to a group of hereditary skin diseases that occur in people, and rarely in dogs. In all forms there is blistering of the skin in response to mild trauma. The 3 major forms are epidermolysis bullosa simplex, junctional epidermolysis bullosa, and dystrophic epidermolysis bullosa, classified based on the location of the structural defects (and associated blisters) within the different layers of the skin.   Severely affected pups develop blisters and crusted erosive ulcers on the footpads, face, genital region and ears, and in the mouth. Mildly affected dogs develop occasional blisters in these areas, especially if there is friction or trauma to the skin. (Canine Inherited Diseases Database)

 

Autosomal recessive

 

Lupoid Dermatosis - Recently recognized disorder seen in both US and Europe. This is a recently recognized disorder in young German shorthaired pointers. Inflammation in the skin results in scaling and crusting on the head, the lower legs, and on the scrotum. The areas affected gradually spread and are commonly painful or itchy. There may be an immune component to this condition.  Unknown mode of inheritance.  (Canine Inherited Diseases Database)

 

Undetermined

 

Intertrigo:  A frictional dermatitis caused by excessive and pronounced skin folding.  Inflammatory lesions occur when sebum, moisture and glandular secretions appear in these folds.  Folds can occur on the body, head or face. 

 

Undetermined

Varies

Primary lymphedema: Caused by abnormal development of the lymph vessels or nodes resulting in the skin having a thickened spongy feel, which will leave dents if pressed upon by fingers; hind legs are most commonly affected, although front legs, abdomen, tail and ears can be affected too. The skin looks normal but has a thickened spongy feel, and if you press it, your fingers will leave dents.  Skin that is swollen due to lymphedema is susceptible to bacterial infection and delayed healing after injury, but otherwise your dog will be generally healthy.

(Canine Inherited Diseases Database)

 

Undetermined

 

Umbilical Hernia:  An outpouching of the skin over the “belly button.”  It may contain abdominal viscera and sometimes regresses spontaneously.

 

Recessive or polygenic

Under 6 Months

Vitiligo:  patchy loss of pigment in the skin (leukoderma), particularly in the facial area. There may be whitening (leukotrichia) or graying (poliosis) of the hair. It may be that the immune system targets the melanocytes - the cells that produce pigment.  Vitiligo may be inherited or it may be acquired, secondary to an injury for example. (Canine Inherited Diseases Database)

 

 

 

Zinc-Responsive Dermatosis:  Rough, cracking and oozing skin caused by the inability to metabolize zinc.  This disorder can be corrected by zinc supplementation. 

 

Undetermined

Under 6 Weeks

Neurologic Diseases:

 

Gangliosidosis (Storage Diseases):  Ataxia, head tremors, blindness and generalized seizures involving all four limbs may occur.  Dogs can become paraplegic or tetraplegic.  Born normal; retarded and blind by 1 year; symptoms range from staggering to seizures; caused by congenital lack of necessary brain enzymes.  GSPs are effected by GM2 (Hexamininidase A+B Deficiency).  Other names:  amaurotic idiocy, Tay-Sachs disease, Norman-landing disease, Derry’s disease, Sandhoff’s disease

 

Recessive

 

Autosomal recessive (Wilcox)

Under 6 months

Sensory Neuropathy:  Brain degeneration that decreases pain sensation; you may see self-mutilation or trauma without apparent pain, particularly of the paws. 

 

Undetermined

Over 6 months

Ceroid Lipofuscinosis, also known as Juvenile Amaurotic idiocy; Batten disease; neuronal ceroid lipofuscinosis.  Symptoms include visual impairment, ataxia, personality changes, seizures and/or paresis; due to lack of brain enzyme.  (Wilcox)

 

Autosomal recessive

Under 2 years

Epilepsy:  Recurrent seizures; some epilepsy is not hereditary (caused by trauma or chemicals).  (Wilcox)

 

Complex; recessive

1 to 3 years

Ocular Diseases:

 

Cataracts:  Vary by breed and age of onset.  As a generality, any lens opacity that obscures vision and may cause blindness is considered a cataract.  GSPs are effected with bilateral cataracts, known as triangular subcapsular cataracts and sometimes called juvenile cataracts. 

 

Undetermined

 

 

Autosomal Dominant (Incomplete Penetrance) according to Dr. Wilcox, DVM

Varies

 

 

Usually over 2 years

 

 

Central Progressive Retinal Atrophy (CPRA):  An optical defect due to retinal pigment degeneration, resulting in secondary degeneration of the rods and cones.  Central vision loss, but peripheral vision may last to old age.  Some dogs may not lose vision.  Undetermined mode of inheritance/<2 years

 

Undetermined

Under 2 Years

Corneal Dystrophy:  Clinically, a corneal opacity without inflammation (gray to white) that interferes with vision.  Usually starts with lipid deposits in the corneal stroma.  Onset varies by breed. 

 

Undetermined

Varies

Eyelash Abnormalities:  Distichiasis in which extra eyelashes grow from abnormal follicles located on the inside edge of the eyelid. They may be singular or multiple. (Canine Inherited Diseases Database)

 

 

 

Entropion:  Turning in of the eyelids, causing the eyelashes to rub the eyeball. 

 

Undetermined

Under 1 year

Eversion of the Nicitating Membrane (Eversion of the Third Eyelid):  the cartilage in the third eyelid is abnormal, causing the third eyelid to roll away from or towards the globe.

 

Two types:  the first is caused by a recessive gene and the second by an undetermined mode of inheritance

Under 3 months

Heterochromia Iridis (Wall Eye):  Odd or different colors of the iris or a portion of the iris. 

 

Undetermined

Birth

Imperforate Lacrimal Punctum (Epiphora):  Failure of development of the nasolacrimal drainage system, causing tears to spill onto the face. 

 

Undetermined

Under 1 year

Pannus:  Blood vessels and pigment migrate over cornea; can lead to blindness; usual form starts laterally and moves inward; “atypical” form begins on inside and moves outward.  (Wilcox)

 

Undetermined

 

Progressive Retinal Atrophy (PRA):  Degeneration of the retinal vision cells, which progresses to blindness. 

 

Undetermined

 

Generalized Progressive Retinal Atrophy:  Autosomal recessive (Wilcox)

 

Varies

Divergent Strabismus (Exotropia):  An outward turning of the eyes (the opposite of cross-eye). 

 

Undetermined

birth

Reproductive Diseases:

 

Cryptorchidism:  An absence of testicles due to retention in the abdomen or inguinal region; can be one- or both-sided, or may slide in and out of the scrotum.

 

Recessive; threshold

Under 3 months

Pseudohermaphrodite (Male, Female):  The male has male organs with some female characteristics and the female has female organs with some male characteristics.  Also known as Chimera.  Usually appears as a female externally, with enlarged clitoris; both ovaries and testes.  In the male, has testes, but internal and external genitalia appear like those of a female chromosomal anomaly.

 

XX/XXY

birth

Skeletal Diseases:

 

Crooked Tails:  Abnormal bend or crook in the tail. 

 

Undetermined

Under 3 months

Hemivertebra:  Abnormal formation of the body of the vertebrae, which can cause posterior ataxia and paralysis.  Causes twisted tail in the screw-tailed breeds.

Recessive

Under 1 year

Hip Dysplasia:  Abnormal formation of the hip socket; causes rear-limb lameness.

 

 

Polygenic

Under 2 years

Hypertrophic Osteodystrophy:  There is a variable presentation, from mild to severe lameness.  There may be depression, fever, dehydration and anorexia. 

 

Undetermined

Under 8 months

Luxation of the Patella:  Poor development of the structures holding the kneecap in place.  The patella usually rotates medially (inward) in small breeds. 

 

Polygenic

Under 1 year

Missing Teeth:  One or more teeth are absent in breeds with normal dentition.

 

Undetermined

Under 5 months

Osteochrondritis Dissecans (OCD):  Aseptic necrosis of bone under joint cartilage; causes lameness.  Involves the Shoulder joint in GSPS

 

Undetermined (Padgett)

 

Polygenic, plus nutritional factors (Wilcox)

 

Under 1 year

Overshot:  Upper jaw extends beyond the lower jaw. 

 

Recessive

Under 1 year

Panosteitis (Enostosis, Eosinophilic Panosteitis):  Usually, sudden onset of a mild, shifting lameness.  Fever, anorexia and lethargy may be present.  The disease may be serioius enough that the animal may not bear weight on the affected limb.  This disease is self-limiting.

 

Undetermined

Under 18 months

Spina Bifida:  Clinical signs may include rear-limb weakness, urinary and fecal incontinence and perineal analgesia.  There may be missing skin, muscle and dorsal spinal processes generally in the lumbosacral area. 

 

Undetermined

birth

Undershot:  Lower jaw extends beyond upper jaw. 

 

Polygenic

Under 1 year

OTHERS:

 

Deafness:  born unable to hear in either one or both ears; often associated with white color, expecially white heads and ears  (Wilcox)

 

 

 

Autosomal recessive

 

 

Birth

Diabetes Insipidus (water diabetes):  extreme polydipsia/polyuria (abnormal thirst and urination); origin form either kidneys or pituitary gland (Wilcox)

Undetermined

 

 

Copyright  2001 Sierra Milton.  sierra.milton@ntlworld.com All rights reserved. However, you are encouraged to copy and distribute this article for non-commercial use with the following restrictions: You may not modify the article in any way. You must include the entire article including the copyright notice. You may not charge any fee for use, copying, nor distribution of the product with the following exceptions: Non-profit organizations may charge a nominal fee (not to exceed $5.00) until and unless notified by the author this is not the case.

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