Myotonia Congenita
This condition causes muscles to relax slowly, leading to stiffness that often improves with movement. Some dogs may also have trouble chewing, noisy breathing, or a tongue that protrudes.
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Signs and symptoms
Affected puppies have prolonged muscle contractions, especially after resting. This leads to visibly appreciable muscle rigidity and a stiff, hopping gait. The tongue muscle is also often affected, causing affected dogs to have a characteristic protruding tongue. They may also have difficulty swallowing or regurgitating their food after eating due to involuntary muscle contractions.
Signs are first recognized in puppies.Uncover health risks with Embark
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Diagnosis
Genetic testing, clinical signs, EMG, and muscle biopsy can be used to diagnose this disease.
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Treatment
There is no treatment currently for this condition, but physical therapy can be beneficial.
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What to do if your dog is at risk
Actions
- Talk to your vet about your dog’s myotonia congenita result so you can plan appropriate care and monitoring.
- Signs such as muscle stiffness after rest often improve with gentle movement or warm-up activity.
- Avoid sudden or strenuous exercise, and provide good traction at home to help your dog move safely.
- Learning gentle stretching or physical therapy techniques from your vet may also help keep your dog comfortable and flexible.
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Genetic Information
This variant was first described in the Labrador Retriever.
This variant is inherited in an autosomal recessive manner, meaning that affected dogs must have two copies of the mutation to show clinical signs.
Gene names:
CLCN1 Exon 19 ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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