Search results for: 'DOG-PRA-PRCD'

X-linked hypohidrotic ectodermal dysplasia is a disease characterised by missing or malformed teeth and absent sweat glands. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

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.

This test is also recommended for Labradoodle as part of the breeding program established by the Flemish government (see official program).

Neuronal ceroid lipofuscinosis is a genetic disease with symptoms including behavioural changes, cognitive decline, cerebellar ataxia, dementia, seizures, nervousness, aggression, hypersensitivity to stimuli, loss of coordination, tremors, retinal degeneration, moderate visual impairment in low light, but good visual acuity in bright light. The first behavioural signs usually appear around the age of 4 to 6 years.

Haemophilia B, also known as factor IX deficiency, is a bleeding disorder. The clinical signs are haematomas and excessive bleeding due to the absence of functional coagulation factor IX.  he disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.

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.

This test is also recommended for Labradoodle as part of the breeding program established by the Flemish government (see official program).

Globoid cell leukodystrophy, also known as Krabbe's disease, is a disorder of lipid storage in the central nervous system leading to progressive neurological degeneration. The first symptoms are ataxia and paresis of the hind legs occurring between 1 and 3 months of age, after which muscle atrophy is observed. Affected animals are usually euthanised due to lack of treatment.

Globoid cell leukodystrophy, also known as Krabbe's disease, is a disorder of lipid storage in the central nervous system leading to progressive neurological degeneration. The first symptoms are ataxia and paresis of the hind legs occurring between 1 and 3 months of age, after which muscle atrophy is observed. Affected animals are usually euthanised due to lack of treatment.

Severe early-onset epilepsy also known as Juvenile Brain DIsease is an extremely serious inherited neurological disorder.
Affected puppies develop normally during the first weeks of life, but around 6 to 12 weeks of age, they rapidly experience severe convulsive seizures that can progress to status epilepticus, often fatal or requiring euthanasia.
Post-mortem examinations reveal that the lesions are concentrated in the brain, with extensive necrosis of the neurons in the grey matter.

Locus Em or melanin mask causes the black mask on the dog's face. This allele is dominant because only one copy is needed to express the mask phenotype. The mask can be tested for in any breed, but is most commonly found in the breeds listed below.

Myotubular myopathy type 1, also known as X-linked myotubular myopathy, is a genetic disease of the skeletal muscles. Clinical signs include hypotonia, muscle atrophy and breathing difficulties. The disease is transmitted in an X-linked recessive manner, so males carrying the mutation will all be affected. However, only females with 2 copies of the mutated allele will be affected.