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Neuroaxonal Dystrophy (NAD) is a severe, degenerative neurological disease that causes a loss of muscle coordination and damages the senses.

Working days 10

Caractéristiques

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Gene

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Organ

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specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue, Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

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Chromosome

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Also known as

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Year Published

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Informations générales

Neuroaxonal Dystrophy (NAD) is a severe, degenerative neurological disease that causes a loss of muscle coordination and damages the senses. This variant of the disorder occurs in the Papillon, and is caused by a recessive mutation to the gene PLA2G6.

Caractéristiques cliniques

Neuroaxonal Dystrophy leads to an uncoordinated gait, dragging of the paws or not knowing where their limbs are relative to the ground. Other symptoms can include blindness and strabismus (wandering eye). Onset of signs is typically between 6 and 18 months of age and follows a progressive course of cognitive and motor regression and hypotonia. Due to poor quality of life, affected dogs are typically euthanized on humane grounds.

Informations Complémentaires

Références

Pubmed ID: 28107443

Omia ID: 2105

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