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H892

Leukoencephalomyelopathy (LEMP) is a severe, degenerative neural disorder that occurs in young dogs and causes a progressive loss of muscle coordination.

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Caractéristiques

Breeds

Gene

Chromosome

18

Mutation

c.538G>C

Mode of Inheritance

Autosomique récessif

Organ

Specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Also known as

LEMP

Informations générales

Leukoencephalomyelopathy (LEMP) is a severe, degenerative neural disorder that occurs in young dogs and causes a progressive loss of muscle coordination. The disorder is caused by a recessive mutation to the gene NAPEPLD. The variant of LEMP analysed in this test occurs in the Leonberger. A related variant is found in the Great Dane and Rottweiler.

Caractéristiques cliniques

Onset of LEMP symptoms in affected dogs generally occurs between 1 and 2 years of age. Signs include ataxia (loss of coordination), knuckling and dragging of the paws, hypermetria (overextension of limbs while stepping) and reduced spinal reflexes. The disease progresses over a matter of months, and euthanasia on humane grounds is likely to be considered.

Additional Information

Références

Pubmed ID: 29643404

Year published: 2018

Omia ID: 1788

Omia variant ID: 985

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