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H289

Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system.

10 días laborables

Especificaciones

Breeds

,

Organ

Gene

Specimen

Hisopo, sangre EDTA, sangre Heparina, Semen, Tejido

Mode of Inheritance

Autosómico recesivo

Chromosome

16

Also known as

NAD

Mutation

c.367delG

Información específica de la prueba

Neuroaxonal dystrophy (NAD) in dogs is a hereditary condition that affects the nervous system. In the condition, there is swelling of cells in the brain which affect the communication with nerve cells. NAD can be present at birth or develop later in a dog’s life, leading to neurological dysfunction and loss of coordination.

There are multiple variants of mutations known in different breeds. In the Toy Australian Shepherd and Miniature American Shepherd, a variant of the disorder has been observed which is probably caused by a recessive mutation to the gene RNF170.

Características clínicas

Affected dogs display slowly progressive neurological signs which can include ataxia (loss of coordination), weakness of the hind limbs, dragging of the toes while walking, seizures, and fearful behaviour.

Información adicional

Referencias

Pubmed ID: 39177409

Year published: 2024

Omia ID: 2876

Omia variant ID:

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