Search results for: 'DOG-PRA-PRCD'

Glanzmann's thrombasthenia is an inherited bleeding disorder caused by a defect in the platelet glycoprotein αIIbβ3, which is essential for platelet aggregation.
Without this functional glycoprotein, the platelet plug forms poorly, leading to excessive bleeding after trauma or surgical procedures.

Centronuclear myopathy is a condition characterised by a generalised loss of tone, muscle control, exercise intolerance and clumsy gait. This myopathy usually manifests itself in puppies at the age of 2-5 months.

Mitochondrial fission encephalopathy is a genetic disease of the nervous system. Bullmastiffs with MFE show a variety of symptoms such as ataxia, visual impairment, progressive gait abnormalities and behavioral abnormalities. The first clinical signs are usually observed around 6 months of age.

Puppies with dry eye/curly coat syndrome have keratoconjunctivitis sicca in the eyes, a curly coat, and are generally smaller than their peers. The footpads are hyperkeratinised with abnormal claw growth.

L'insuffisance d'Adhérence Leucocytaire est une anomalie du système immunitaire. En raison de la mutation, les leucocytes ne détruisent pas les bactéries et les virus conduisant à la mort des chiots atteints.

This cardiomyopathy leads to death without apparent cause at around 6-8 weeks of age in the Belgian Shepherd. Symptoms of this condition vary from individual to individual and include: vomiting, dyspnoea, enlarged heart, difficulty in locomotion, tremors.

Congenital myasthenic syndrome is caused by a malfunction in the transmission of nerve signals to the muscle, with symptoms usually appearing between 6 and 12 weeks of age. Affected puppies show generalised skeletal muscle weakness and fatigue, usually induced by exercise.

Episodic falling syndrome is a neurological disorder in which episodes are triggered by exercise, stress or excitement and are characterised by stiffness of the thoracic and pelvic limbs. Symptoms vary from individual to individual.

Imerslund-Gräsbeck syndrome is characterised by malabsorption of vitamin B12 (cobalamin). The first symptoms appear around 6 to 12 weeks. The clinical signs are due to the lack of cobalamin which causes megaloblastic anaemia and neurological symptoms.

Neuronal ceroid lipofuscinosis is a genetic defect characterised by a visual deficit that progresses to complete blindness, as well as progressive anxiety, cognitive and motor degeneration and lack of coordination.