Myotonia Congenita
This condition is characterized by prolonged muscle contraction and stiffness that usually resolves with normal exercise.
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Signs and symptoms
Affected dogs present as puppies for prolonged muscle contractions, especially after resting. This leads to visibly appreciable muscle rigidity and a stiff, hopping gait. The tongue muscle is often affected as well, causing affected dogs to have a characteristic protruding tongue. Affected dogs may also have difficulty swallowing or may regurgitate their food after eating due to involuntary muscle contractions.
Signs first appear in puppies. -
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
- Learning physical therapy techniques from your veterinarian may be beneficial at home.
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Genetic Information
This mutation was first described in the Miniature Schnauzer.
This disease 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 7) ‐ chr
Inheritance type:
recessive
Citations:
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Breeds affected
This health condition affects the following breeds
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