Description: EIC is a disease where affected dogs collapse after exertion or exercise. Affected dogs have normal muscle mass, normal patellar reflexes, and normal muscle biopsy findings before the episode. They are capable of moderate exertion without signs of illness (Taylor et al., 2008, Patterson et al., 2008). Symptoms appear within 2 minutes of completing 5 to 15 minutes of strenuous exercise. Affected dogs develop a wobbly gait with hindlimb weakness and incoordination, a wide stance, and walking with bent hind legs. Symptoms can progress to full body weakness, stiffness, confusion, loss of consciousness and rarely death. Episodes often last 5-10 minutes, often with full recovery after 30 minutes. Loss of patellar reflexes persists after initial recovery.
The causal mutation was identified in the DNM1 gene. The product of the DNM1 gene – Dynamin 1 is a type of GTPase that facilitates continuous neurotransmission across synapses. At the presynaptic terminal membrane, it assists in the release of membrane vesicles containing neurotransmitter, which is required for continuous synaptic communication (Patterson et al 2008). During high-intensity exercise, DNM1 activity is insufficient to maintain synaptic transmission, causing a reversible loss of motor function (Patterson et al., 2008).
Inheritance: autosomal recessive
Mutation: g.55282762C>A, c.767G>T in DNM1 gene
Sample: EDTA whole blood (1.0 ml) or 2 buccal brushes
The analysis is suitable for the following breeds: Chesapeake Bay Retriever, Curly Coated Retriever, Labrador Retriever
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