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H274

Congenital Mirror Movement Disorder 1 (CMM1) is an autosomal recessive movement disorder that affects the Weimaraner breed.

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Congenital Mirror Movement Disorder 1 (CMM1) is an autosomal recessive movement disorder that affects the Weimaraner breed. In dogs with CMM1, nerve pathways in the spinal cord switch sides. This alteration prevents affected dogs from controlling each hind leg independently, leading to the characteristic bunny hopping gait. This gait might be occasionally observed in the front legs as well, though the primary focus is on the hind legs. The disorder is caused by a mutation in the EFNB3 gene that results in spinal cord malformations during embryonic development.

Caractéristiques cliniques

This condition is characterized by a unique movement pattern, where the hind legs move simultaneously in a hopping motion, resembling that of a bunny. Other symptoms include rear leg weakness and lack of coordination, while the front legs remain coordinated and strong.

The condition of CMM1-affected puppies does not improve over time. Consequently, euthanasia is often considered on human grounds for affected individuals.

Additional Information

This test was previously named Bunny Hopping Syndrome 1 (BHS1, EFNB3-related)

Références

Pubmed ID: 40401490

Omia ID: 2353

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