Diseases of the Border Collie
At Bleu Perle Border Collie we look for having healthy dogs, free of genetic diseases, and we carry out the appropriate tests.

HIP DYSPLASIA
DEFINITION AND CAUSES OF THE PROBLEM
Hip dysplasia is a defective development of the hip and femur (hip joint) and a degenerative process of the same. Dysplasia is a multifactorial disease. It has a strong genetic component, with a very high rate of heritability, as well as a number of environmental factors, such us nutrition or behavior. It seems to be demonstrated that an over-activity when pups, been accommodated on slippery floors or a diet promoting a too quick growth may be also involved in causing this health problem.
Thus, taking care of the food, looking for a balanced feed (minerals and vitamins) is very important to reach a balanced growth of the bones and soft tissues (muscles). Bad habits with our puppy may cause problems and dangerous exercises at an early stage of the life of our dog, such as jumping, climbing stairs, slips etc. must be avoided.
We must learn monitoring and controlling our young companion. The puppy will always be ready to run, jump, climb up and down ... but too much of these activities, that our young puppy enjoys so much, can maybe harmful to his health, if not properly controlled.

HIP DYSPLASIA
SYMPTOMS
A dog suffering of dysplasia means, in fact, that the his joints are badly developed. The head of the femur does not fit properly in the cavity of the acetabulum, or hip. Thus, the hip is unstable and causes inflammation, pain and weakness.
Symptoms can be misleading, since, in some cases, the animal shows no sign of it until the problem is already in an advanced stage. When it appears, the signs we can see go from small anomalies in the movement when walking to severe lameness. Although these symptoms may indicate the existence of the disease the only truly reliable way to detect it is by radiography.

HIP DYSPLASIA
DIAGNOSIS
Nowadays, there is no genetic method showing individuals that are prone to disease, so the best monitoring method is radiology. However, by controlling the dogs to be mated, selecting individuals with good hips, you’ll probably get puppies free of dysplasia.
Radiographs should be carried out by a veterinarian, and usually under general anesthesia of the dog, as the best position to get up radiographs is rather uncomfortable for them, and need to be as still as possible.
Radiology allows breeders to establish a selection program and to avoid using as breeding animals those that are not considered suitable according to their degree of dysplasia. It is to the breeders to inform future owners of our puppies about their parents health issues, and to give advice of the most appropriate measures to be adopted with the puppy. Good advice can prevent serious future problems!

HIP DYSPLASIA
Sample of an affected hip dysplasia, as well as subsequent treatments to correct the anomalous position of the bones. As it can be seen, it is an invasive treatment, expensive and involves anesthesia of the animal. Photos released by Marie-Pierre, Moselle (France), your dog tricolor. -G (gauche, izquierda) y D (droite, derecha)-. -G (left, left) and D (right, right) -.

Hip free of dysplasia, from one of our females
At Bleu Perle Border Collie we look for having healthy dogs, free of genetic diseases, and we carry out the appropriate tests.

The hip of one of our males, healthy, and with normal bone development.
NEURONAL CEROID LIPOFUSCINOSIS (CL)
The Neuronal Ceroid lipofuscinosis (CL) is a kind of epilepsy causing the degeneration of some cells and the eye. Affected individuals may show the first symptoms when they are about one year old: loss of motor ability, lack of vision, etc.
The CL is a deadly disease in most of the cases as there is no treatment. Nowadays, the available genetic tests may show us whether a dog is normal, carrier or affected, so breeders can improve mates in order not to lose good genes and avoiding producing affected puppies. From a genetic point of view, dogs can be:
- NORMAL:
Normal individuals never suffer from the disease nor transmit it to their descendants.
- CARRIER:
Individuals carrying the disease never suffer it. A carrier should only be mated with a Normal individual. Thus none of their descendants will suffer the disease.
- AFFECTED:
Affected specimens have the genetic mutation and it is expected that throughout his life they will develop the disease, more or less severe. These individuals should only be mated, as appropriate, with normal individuals. Thus none of their descendants will have the disease.
TABLE OF RESULT IN THE CROSSINGS ACCORDING TO ITS GENETIC CODE
Herein below we can see the different outcomes resulting from mating, according to the results of DNA tests. It is important to note that you should always avoid mates resulting on affected puppies.

THE COLLIE EYE ANOMALY (CEA)
The Collie Eye Anomaly (CEA) is a congenital alteration of hereditary nature which affects the eye. It is also known as scleral ectasia syndrome. It is believed that the pathogenesis is based on a distinction that triggers abnormal mesodermal defects of variable importante.
Diagnosis is difficult, as is manifested in four types of lesions, whose presentation is so variable, and its recessive character. However, it is possible to diagnose about 6 or 7 weeks, which allows the control of the disease. The older, more difficult it is to make the diagnosis.
Nowadays, the available genetic tests may show us whether a dog is normal, carrier or affected, so breeders can improve mates in order not to lose good genes and avoiding producing affected puppies. From a genetic point of view, dogs can be:
- NORMAL:
Normal individuals never suffer from the disease nor transmit it to their descendants.
- CARRIER:
Individuals carrying the disease never suffer it. A carrier should only be mated with a Normal individual. Thus none of their descendants will suffer the disease.
- AFFECTED:
Affected specimens have the genetic mutation and it is expected that throughout his life they will develop the disease, more or less severe. These individuals should only be mated, as appropriate, with normal individuals. Thus none of their descendants will have the disease.

TRAPPED NEUTROPHIL SYNDROME (TNS)
TNS is a lethal hereditary disease, and individuals that suffer rarely reaches the age of one year. TNS causes the degeneration of the immune system of the animal, depriving it of the necessary defenses against diseases that healthy individuals overcome without much difficulties.
TNS usually becomes apparent, with fatal consequences, after the first vaccination. It is therefore very important to control this deadly disease through genetic testing.


MIELOPATÍA DEGENERATIVA, DM
La enfermedad se desarrolla debido a una lenta degeneración del sistema nervioso en la columna vertebral, lo que resulta en una pérdida progresiva de la funcionalidad motora. En las etapas iniciales de la enfermedad suele desarrollarse parálisis en las piernas.
El factor genético que predispone para DM se hereda en un modo autosómico recesivo. Esto significa que el perro puede estar libre de la enfermedad (homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto). Los portadores no desarrollarán la enfermedad.

NEUROPATÍA SENSORIAL
Se caracteriza por una degeneración axonal y la pérdida de fibras nerviosas que involucran principalmente los nervios sensoriales. Los nervios sensoriales y motores mixtos se deterioran en menor medida. Como consecuencia, se produce ataxia progresiva, nudillos intermitentes de las patas y automutilación.
Los síntomas aparecen a los 5-7 meses de edad: pérdida de coordinación, laxitud articular, pérdida de propiocepción, e incapacidad para percibir el dolor y en todos los casos progresa hasta el punto donde la eutanasia es necesaria.
El factor genético que predispone para el desarrollo de la Neuropatía Sensorial se hereda en un modo autosómico recesivo. Esto significa que el perro puede estar libre de la enfermedad (homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto). Los portadores no desarrollarán la enfermedad.

HIPERURICEMIA (HUU)
Se desarrolla por un transporte ineficaz de ácido úrico en el hígado y el riñón, lo que conduce a niveles elevados de ácido úrico en la sangre y la orina y puede dar lugar a enfermedades importantes como la hiperuricosuria o hiperuricemia (HUU), que provocarán efectos graves en órganos internos como el estómago, tracto intestinal, hígado y riñones.
El factor genético que predispone para el desarrollo de la Hiperuricemia se hereda en un modo autosómico recesivo. Esto significa que el perro puede estar libre de la enfermedad (homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto).

IGS (MALABSORCIÓN SELECTIVA DE COBALAMINA) 2 (SÍNDROME DE IMERSLUND-GRASBECK)
La malabsorción de vitamina B12 es una enfermedad metabólica grave y potencialmente mortal en cachorros y perros jóvenes. En los perros afectados, el revestimiento del intestino delgado no absorberá la vitamina B12. La enfermedad puede causar una amplia gama de problemas clínicos, que incluyen falta de apetito, letargo, retraso del crecimiento, emaciación, vómitos, convulsiones o mala salud en general. Las complicaciones más graves incluyen anormalidades de la sangre y el sistema nervioso que son letales si no se tratan. Afortunadamente, con un diagnóstico y tratamiento crónico adecuado, los perros afectados pueden mantenerse en remisión durante toda su vida.
El factor genético que predispone para el desarrollo de IGS se hereda en un modo autosómico recesivo. Esto significa que el perro puede estar libre de la enfermedad (homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto). Los portadores no desarrollarán la enfermedad pero si transmitirán el alelo defectuoso al 50% de su descendencia.

HIPERTERMIA MALIGNA
La hipertermia maligna (HM) es un trastorno hereditario del músculo esquelético caracterizado por hipercapnia (elevación anormal en la concentración de dióxido de carbono (CO2) en la sangre arterial), rabdomiólisis (trastorno caracterizado por la desestructuración y posterior necrosis del músculo esquelético), contractura generalizada del músculo esquelético, arritmia cardíaca e insuficiencia renal, que se desarrolla con la exposición a succinilcolina o agentes anestésicos volátiles.
Las intervenciones específicas, incluido el uso del antagonista del canal de liberación de calcio dantroleno, son eficaces para revertir los signos del síndrome canino.
Este factor genético se hereda en un modo autosómico, dominante. Esto significa que el perro puede estar libre de la mutación (homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto afectado). Tanto los portadores como los afectados mostrarán los síntomas de la mutación.

MDR1 (SENSIBILIDAD MEDICAMENTOS GEN MDR1)
El gen de resistencia a multidrogas 1 (gen MDR1) juega un papel importante en la barrera entre los capilares sanguíneos y el tejido cerebral. Una mutación en el gen MDR1, que codifica para la glicoproteína P, hace que no se produzca esta proteína, necesaria para el transporte de muchos medicamentos a través de la sangre hacia distintos órganos del cuerpo.
Por ello, los perros con la mutación en el gen MDR1 tendrán efectos tóxicos agudos e incluso letales cuando se les administren cierto tipo de medicamentos (Ivermectina (antiparasitario), loperamida, butorfanol, doxiciclina, etc).
El factor genético de la mutación en el gen MDR1 se hereda en un modo autosómico recesivo. Esto significa que el perro puede estar libre de la mutación(homocigoto normal), afectado (homocigoto afectado) o portador (heterocigoto). Los portadores no desarrollarán la sensibilidad, pero si transmitirán el alelo defectuoso al 50% de su descendencia.
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