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Genetic Diseases

For several thousand years dogs been our companions, helpers and guardians. A dog, treated with a little kindness, will be your friend for life.
How do we reward them? By condemning many to a life of pain or an early death due to various inherited diseases.
Do we not owe them more than this?

Breed Responsibly

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Boerboel Genetic Diseases
For Genetic Diseases known in the BB
Click Here


Canine Genetic Diseases
Genetic Diseases whose mode of inheritance
is known, are listed below



Acral Mutilation and Analgesia (AMA)

Also know as

  • Acral Mutilation Syndrome

  • Idiopathic Self-Mutilation

Symptoms appear similar to Acral Lick Granuloma (Acral Lick Dermatitis) however Lick Granuloma or Dermitisis is not hereditory, and is cureable.

Acral Mutilation Syndrome is believed to be an autosomal recessive disorder, and other siblings might also be affected. Dogs with this disorder lose feeling in their toes and feet, due to abnormal development and slow degeneration of the sensory neurons in the spinal cord and peripheral nerves. Dogs chew their feet and cause extensive mutilation and damage.

Symptoms appear at 3 to 5 months of age, when affected pups usually begin to lick and bite their feet with no temperature or pain sensation in the toes and sometimes up the legs. The hind legs are most severely affected. Toes and feet will ulcerate and become swollen, yet the dog will continue to walk with no apparent discomfort on the mutilated feet.

A definitive diagnosis can be achieved through Electromyography, which will reveal an absence of normal nerve potentials in your dog. Diagnosis can also be made at necropsy, based on the characteristic changes in the nervous system.

Unfortunately there is no treatment. Attempts to prevent mutilation through the use of bandages, collars or sedation are unsuccessful and, as the mutilation worsens, owners generally request euthanasia.

There ar no tests for carriers of A.M.S. (AMA), and neither the parents nor the siblings of affected dogs should be use for breeding.

Further information can be found at  http://www.shilohgtf.com/Acral_Mutilation_Syndrome.htm

Aortic Stenosis (AS)
Aortic Stenosis

Aortic Stenosis - also known as Aortic Valve Stenosis - is a narrowing of the aortic valve in the heart, which hinders the flow of blood, and places a strain on the heart.

This constriction causes a pressure difference between the left ventrical and the aorta. The blood pressure cuff may measure a normal systolic blood pressure, however the actual pressure generated by the left ventrical is considerably higher. Due to the increased pressures generated by the left ventricle, the muscle of the left ventrical increase in mass.

Mild narrowing may not cause symptoms. More severe narrowing can cause dizziness, fainting spells, angina and congestive heart failure. More symptoms indicate a worse prognosis.

Major causes  include acute rheumatic fever and a bicuspid aortic valve. As individuals age, calcification of the aortic valve may occur and result in stenosis. There are however also predisposing conditions, and Aortic Stenosis is possibly the most common heart defect seen in large breed dogs

It is not possible to predict the severity of the defect from one generation to the next; in other words, breeding from a dog with mild aortic stenosis could produce offspring with severe aortic stenosis. It is therefore usually recommended that affected dogs and bitches should not be used in any breeding programme.

Further information can be found at   http://www.bregorreyglens.co.uk/as.html

See also   http://www.boxerunderground.com/uk/as_control.htm


Black Hair Follicular Dysplasia (BHFD)

This is one form of Canine Follicular Dysplasia or Follicular Dysplasia (which see) - in which only the black hairs on animals are affected. It is considered to be similar to color dilution alopecia (another form of Follicular Dysplasia) and is inherited as an autosomal recessive trait.

BHFD occurs in piebald dogs and dogs with bi-or tri-colored coats and causes hair loss in black-haired areas soon after birth. Though they appear normal at birth, they start losing black hairs at about 4 weeks of age, becoming totally bald in these areas by the age of  about 40 weeks.

Further information can be found at http://www.gopetsamerica.com/dog-health/black-hair-follicular-dysplasia.aspx


Canine Leucocyte Adhesion Deficiency (CLAD)

Leukocyte-adhesion deficiency (abbreviated LAD), is a rare autosomal recessive disorder characterized by immunodeficiency resulting in recurrent infections. The disorder is often divided into two separate genotypes called type I and type II, with type II being associated with fewer infections but more developmental delay. 

In Canines, this is called Canine Leukocyte Adhesion Deficiency (CLAD). The fact that CLAD is identical to the disease in man and cows, has greatly aided the search for the CLAD mutation, because the genetic mutation causing human LAD and bovine LAD (BLAD) is known. This knowledge enabled a research group at the University of Uppsala in Sweden, led by Dr Leif Andersson, to show that the same mutant gene causes CLAD in the Irish Setter.

Canine Leukocyte Adhesion Deficiency (CLAD) is an inherited abnormality of the immune system where the white blood cells are unable to fight infection. Although rare it is a fatal immunodeficiency disease.  Pups that inherit two recessive genes for CLAD usually die early in life from multiple severe infections, even when treated with massive doses of antibiotics.

Reliable identification of dogs that do not carry disease genes is the key to eliminating autosomal recessive diseases such as CLAD. OptiGen offers a new DNA-based test that provides a method to eliminate Canine Leukocyte Adhesion Deficiency.

As CLAD has an autosomal recessive mode of inheritance, two copies of the defective gene, one inherited from each parent, have to be present for a dog to be affected by the disease. Dogs with one copy of the defective gene and one copy of the normal gene show no symptoms. They are however carriers and can pass the defective gene onto their offspring.

As a mutation-based gene test, the OptiGen CLAD test unequivocally and specifically identifies "genetically clear" dogs. Such dogs can pass only the gene for normal leukocyte (white blood cell) function on to all their pups. The test also identifies carriers with 100% accuracy.

Responsible breeding however dictates that carriers of this disease should not be used under any circumstances for breeding. However with limited gene pools, it is not strictly necessary to remove those carriers which are otherwise excellent dogs from the breeding population. These carriers can be safely bred to "clears." Their recessive genes can only cause disease when matched with the recessive gene of another carrier. Performed early enough, this test will accurately identify affecteds as well. These however usually don't survive to breeding age. Given the lethal nature of the disease, however, it is best to select against carriers who are not superlative dogs, so as to entirely eliminate the gene from a line within two or three generations.


Symptoms (in Humans)
There are many symptoms of L.A.D. Some differ with the specific genotype and/or phenotype of L.A.D. The symptoms listed immediately below are generally common to human genotypes and phenotypes of L.A.D.


Recurrent skin infections - may be more frequent and severe in younger patients.


Sometimes significant internal infections - these may occur less frequently than skin infections mentioned above, depending on the Type of L.A.D. the patient has, their ability to manage it and their age.


Severe Periodontal disease - up to and possibly including complete tooth loss.


Delayed wound healing - this might initially present itself as delayed umbilical cord separation. 




Leukocytosis - an increased white blood cell count. This symptom may be more severe in younger patients and may decrease as the patient ages.

Additionally, the following symptoms have been observed and reported in a patient with L.A.D. Type 1 Variant but may not be present in other forms of L.A.D.


Enlarged spleen or splenomegaly.


Muscle, tendon and joint discomfort, pain and/or swelling. This is thought to be caused by either a significantly increased level of superoxides a.k.a. "free radicals" in white blood cells and the bloodstream or increased pro-inflammatory cytokine production. This symptom did not appear to be present when the patient was younger but has become evident as the patient aged and could be related to the patient's genetic variant. This "effect" seems to be similar to some autoimmune disorders where the immune system is in some way "over active" and may therefore adversely affect normal tissues.


For further reading I recommend Irishsetter.org.uk

wikipedia is also a good read for LAD in humans

The info above was obtained from....

optigen.com, healthgene.com and ladinfo.org


Canine Cyclic Neutropenia

Further information can be found at

Centralised PRA

Further information can be found at

Cerebellar Abiotrophy

Further information can be found at

Cerebellar Ataxia

Further information can be found at

Cerebellar Hypoplasia

Further information can be found at

Ceroid Lipofuscinosis

Further information can be found at

 Cervical Spondylomyelopathy
X-ray of wobbler disease in a dog
X-ray of wobbler disease in a dog





















Also know as

  • Caudal Cervical Spondylomyelopathy (CCSM)

  • Cervical Spondylomyelopathy (CSM)

  • Wobbler Syndrome

  • Cervical Malformation-Malarticulation

  • Cervical Vertebral Instability (CVM)

Wobbler disease is a condition of the cervical (neck) vertebrae that causes an unsteady (wobbly) gait and weakness in dogs and horses. The term wobbler disease refers to a number of different conditions of the cervical (neck) spinal column that all cause similar symptoms. These conditions may include malformation of the vertebrae, intervertebral disc protrusion, and disease of the interspinal ligaments, ligamenta flava, and articular facets of the vertebrae. In dogs, the disease is most common in large breeds, especially Great Danes and Dobermanns (80% of cases), and is most likely inherited in dogs.

Cervical spondylomyelopathy is characterized by cervical spinal cord and nerve root compression. The exact etiology is unknown. Multiply factors including "over nutrition" and hypercalcitoninism, mechanical factors, genetic factors and degenerative disk disease are probably involved. Myelopathy may result from stenosis of the vertebral canal, vertebral instability, disc herniation (Hansen type II), ligamentous hypertrophy, joint capsule proliferation or osteophyte production.

The lesion is located more frequently to C4-C6 vertebrae in the Great Danes and C5-C7 in Doberman pinchers.

The above is taken from World Small Animal Veternary Association, where the full artical can be reviewed, contaning;
Clinical signs, Diagnosis, Differential Diagnosis, Treatment and Prognisis.
The Diagnostic and Therapeutic Approach to Cervical Spondylomyelopathy.

Instability of the vertebrae of the neck causes spinal cord compression. In younger dogs, it is caused by anarrowing of the vertebral canal, which is related to degeneration of the dorsal articular facets and subsequent thickening of the associated joint capsules and ligaments. A high protein diet may contribute to its development. In middle aged and older dogs, intervertebral disc disease leads to bulging of the disc contents, and the spinal cord is compressed.

The disease tends to be gradually progressive. Symptoms such as weakness, ataxia, (neurological signs and symptoms consisting of gross incoordination of muscle movements) and dragging of the toes start in the rear legs. Dogs often have a crouching stance with a downward flexed neck. The disease progresses to the front legs, but the symptoms are less severe. Neck pain is sometimes seen. Symptoms are usually gradual in onset but may progress rapidly following trauma. X-rays may show malaligned vertebrae and narrow disk spaces, but it is not as effective as a myelogram, which reveals narrowing of the vertebral canal. MRI has been shown to be more effective at showing the location, nature, and severity of spinal cord compression than a myelogram.

A picture paints a thousand words...
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Treatment is either medical to control the symptoms, usually with corticosteroids and cage rest, or surgical to correct the spinal cord compression. The prognosis is guarded in either case. Surgery may fully correct the problem, but it is technically difficult and relapses may occur. Types of surgery include ventral decompression of the spinal cord (ventral slot technique), dorsal decompression, and vertebral stabilization. One study showed no significant advantage to any of the common spinal cord decompression procedures. Another study showed that electroacupuncture may be a successful treatment for Wobbler disease.

There is a procedure called Gold Bead Implants, which certainly has helped at least one Boerboel owner. This procedure can be effective for many severe, otherwise degenerative conditions, such as wobblers disease, degenerative myelopathy, severe spondylosis or "back arthritis", hip dysplasia, elbow or knee arthritis, and epilepsy. The veterinarian implants the beads into specific acupuncture points, which vary depending on the medical condition and the individual energetics of the animal. They offer a safe, drug-free, and effective way to help patients.  For further reading see Gold Bead Implants

Success Story…
I have a 6 year old Boerboel, Ranger, who has severe Wobblers. He was diagnosed with an MRI at one of the top hospitals in the
US. He has 4 of 5 vertebrae in his neck affected and was not considered a surgical candidate. I consulted with specialists at Cornell, Tufts Animal Medical Centre, in NY and Alameda East in CO who all told me I had no options. Through my own research I found out about a procedure called Gold Bead Implants that is a kind of permanent acupuncture I drove Ranger 12 hours each way to Indiana to have this procedure done. This was almost 4 years ago and he has been pain-free since he walked out of the vet's office. He has NO symptoms, no pain, and now has full range of motion in his neck. He hikes, plays and swims every day - the only hint that he has Wobblers is that he wears a harness and not a collar. I just want to get the word out that Wobblers is NOT a death sentence.



Chronic Hepatitis

Further information can be found at

Cleft Lip/Palate






Cleft palate is a condition in which, for genetic and/or environmental reasons, the hard surface of the roof of the mouth and the softer palate behind it fail to close completely. The first sign something is wrong (if you don't examine your pups immediately after delivery) is usually milk bubbling out the nose when the newborn attempts to nurse. In addition to strictly genetic cause, there are numerous other cases of environmentally-mediated cleft palate. It is a frequent defect found in offspring of diabetics. It has been produced experimentally by vitamin A imbalance whether too much or too little, and is often a result of poisons and steroids taken or produced by bitches in the first three weeks of gestation. Such corticosteroid production increase frequently can be associated with unsound character and/or a severe scare (fright). In canines, a deficiency of vitamin B-12 has also been identified as a cause. Antihistamines given early in pregnancy, at least in some doses, are also suspect. Viral infections at that stage, or certain other chemicals have also been determined to cause cleft palate. I believe natural or synthetic hormones and steroids are potentially very dangerous if given to bitches during pregnancy; most of the time, cleft palate is a steroid caused birth defect. Cortisone and similar steroids can also facilitate spontaneous bleeding, which is more perilous during whelping and surgical convalescence than at other times.
China Road

Sometimes puppies are born that can't suckle properly, and it's almost alway's because they have a cleft palate. A cleft palate can be a complete division up the middle of the palate, or roof of the mouth, or it can just be a small hole in the palate.

Canine cleft palate is a failure of the two sides of the palate to fuse correctly during the embryonic stage of developement. It can just be the soft tissue, in which case it only presents as a cosmetic malformation, but if the hard palate is affected, it inevitably spells doom for the new born pup. A cleft pale in dogs can be either a genetic defect, or due to something occuring during the developement of the embryo.

Surgical correction of cleft palate

All puppies should be examined for a cleft palate as early as possible, by opening the jaws and looking at the roof of the mouth. If the breed is very small, it may be necessary to get your Vet to check for you.

It is possible to correct a cleft palate surgically, however the pup must be old enough to undergo an anaesthetic, so in the early stages of it's life the puppy will need hand feeding with a stomach tube.

Cleft palate of the outer soft tissue, sometimes called canine hare lip, can repaired surgically at about six months of age. Small holes in the roof of the mouth can self correct as the pup grows older, but may also be corrected surgically if so desired.

Training Dog Breeds

To avoid midline closure defects, there are several steps you should take. Naturally, the first is to be careful about your choice of breeding pairs. After insuring the genetic component as much as feasible, make sure that the environment is one that promotes good health and avoids toxins and psychological traumas. Don’t let your bitch roam, especially during the first 3 weeks of pregnancy. Make sure you do everything to favor full-term gestation. If you have brachycephalic (especially toy) breeds such as Pekes, Pugs, Bulldogs, Bostons, and the like, research the ancestors and siblings for any problems before you breed your own dog.

Initial signs include difficulty suckling, dysphagia, and evidence of milk dripping from the nostrils when the newborn attempts to nurse. Respiratory infection due to aspiration of food is common and a grave consequence with a poor prognosis. Examination of the oral cavity generally readily reveals the defect, except in foals having only a cleft of the soft palate that may be difficult to see. 

Initial management requires intensive nursing care, including hand or tube feeding to ensure daily nutritional and caloric requirements are met, as well as the occasional need for appropriate antimicrobial therapy to treat for secondary infections of the rhinarium or lower respiratory tract. Surgical correction is effective only if the defect is small and is usually done at ~6-8 wk of age in small animals, before their general health is compromised. Various surgical techniques, ranging from simple closure to the need for sliding grafts or prosthetic implants, are used, depending on the severity and location of the defect. More severely affected animals may require multiple surgeries for successful correction. Surgical repair should be attempted only after ethical questions have been addressed, and the affected animal should be surgically sterilized or removed from breeding stock to prevent reproducing the anomaly in future offspring.

China Road


Strong recomendation for further reading - China Road


Collie Eye Anomaly


Complement Deficiency


Copper-Associated Hepatitis


Cutaneous Asthenia


Dalmatian Bronzing Syndrome


Dancing Dobermann Disease




Distal Sensor. Polyneuropathy


Dominant Megaoesophagus


Epidermal Dysplasia


Epidermolysis Bullosa


Exocrine Pancreatic Insufficiency


Factor X Deficiency


Focal Spinal Musc. Atrophy


Fold Dermatitis


Follicular Dysplasia
Cyclic follicular dysplasia

follicular dysplasia





Gangliosidosis GM1


Gangliosidosis GM2 Type B


Gangliosidosis GM2 Type O


Generalised PRA


German Shepherd Pyoderma


Giant Axonal Neuropathy


Globoid Cell Leukodystrophy




Glycogen Storage Dis. Type 3


Haemophilia A


Haemophilia B


Hemeralopia (Day Blindness)


Hereditory Myopathy


Hypertrophic Neuropathy






Idiopathic Polyneuropathy


Juvenile Hyperparathyroidism


Laryngeal Paralysis


Lethal Acrodermatitis






Motor Neuron Disease


Multi. Chrom. Neuronal Degen.


Myasthenia Gravis




Narrow Angle Glaucoma


Neuroaxonal Dystrophy


Nodular Dermatofibrosis


Open Angle Glaucoma


Patella Luxation


Pituitary Dwarfism


Prog. Spinal Musc. Atrophy


Progressive Axonopathy


Protein-Losing Enteropathy


Recessive Megaoesophagus


Retinal Dysplasia


Scotty Cramp


Sebaceous Adenitis




Sensory Neuropathy


Severe Combined Immunodeficiency




Spinal Muscular Atrophy


Tetralogy of Fallot


Ventricular Septal Defect


X-linked Hypomyelinogenesis


 Wobbler Syndrome
See - Cervical Spondylomyelopathy above