Disease overview

Feline Myotonia Congenita is a hereditary neuromuscular disorder characterized by persistent contraction or delayed relaxation of muscles, particularly during movement. The word myotonia derives from the Greek word "myo" for muscle and the Latin word "tonus" for tension. This disease is caused by an autosomal recessive mutation and it is not breed-specific. Other than cats, the disease has been described in humans, dogs, horses, goats, mice, and water buffalos.

Gene name

CLCN1

Inheritance

Likely autosomal recessive in cats; inheritance pattern can vary in different organisms.

Signs and symptoms

Typical signs of myotonia include prolonged muscle contraction, muscle stiffness, difficulty breathing, dysphagia (difficulty swallowing), regurgitation, protruded tongue and voice change. Respiratory issues can occur due to stiffness in the esophagus, which is a more serious complication of the disease.

How is it diagnosed

To diagnose myotonia, veterinarians rely on a detailed history from the owner. The diagnosis is confirmed with a full physical examination, bloodwork, and urinalysis.

Breeds at higher risk

Current data does not indicate that specific breeds are at a higher risk.

Citations

https://pubmed.ncbi.nlm.nih.gov/25356766/

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.