Cerebellar hypoplasia | Dandy-Walker-like Malformation (DWLM Dog)
Cerebellar hypoplasia (also known as "Dandy-Walker-like malformation" DWLM) is a genetically caused malformation of the cerebellum. This leads to disorders and failures of body functions that are controlled by the cerebellum, especially movements. Symptoms are ataxia, epileptic seizures and tremor.
The disease occurs in Eurasiers. The inheritance is autosomal recessive.
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Symptoms
- Ataxia
- Frequent falling over/down
- Epileptic seizures
- Hydrocephalus (water head) possible
- Tremor (shaking) especially when eating or drinking
General Information
- Cerebellar hypoplasia is also known as "Dandy-Walker-like malformation" (DWLM).
- This is a genetically caused malformation of the cerebellum.
- This leads to disorders and failures of body functions that are controlled by the cerebellum.
- The first symptoms appear at the age of 5-6 weeks.
- Affected dogs have a strongly reduced quality of life.
Breeds affected
Eurasier
Test Information
This mutation test shows the deletion of a single base pair (c.1713delC) in the VLDLR gene.
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Also in the Eurasier 'DWLM + 2 colours' package
Genotype and Lab Report
Inheritance: autosomal recessive
→ The disease only occurs if both alleles of the gene are affected by the mutation (dwlm/dwlm). Dogs that have only one allele with the causative mutation (N/dwlm) are clinically healthy carriers.
Genotypes:
N/N = genetically normal
The dog has no predispositions for DWLM and therefore cannot pass it on to its offspring.
N/dwlm = a carrier
The dog is a clinically healthy carrier. 50% of the variation is passed on to the offspring, who are then also carriers.
dwlm/dwlm = affected
The variation would be passed on 100% to the offspring, but breeding maturity is often not reached.
Recommendations
- Carrier animals can be bred to normal animals (N/dwlm x N/N). Before the offspring are used in breeding, they should be tested whether they are normal or carriers.
- Breeding two carrier animals (N/dwlm x N/dwlm) should be avoided as there is a 25% chance that the offspring will be affected.
- Affected animals (dwlm/dwlm) should be excluded from breeding if they reach breeding maturity.
Literature
Gerber, M., Fischer, A., Jagannathan, V., Drögemüller, M., Drögemüller, C., Schmidt, M.J., Bernardino, F., Manz, E., Matiasek, K., Rentmeister, K., Leeb, T. : A deletion in the VLDLR gene in Eurasier dogs with cerebellar hypoplasia resembling a Dandy-Walker-like malformation (DWLM). PLoS One 10:e0108917, 2015. Pubmed reference: 25668033. DOI: 10.1371/journal.pone.0108917.
Further information is available at: Online Mendelian Inheritance in Animals.