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Myotonia Congenita is a hereditary muscle disorder caused by mutations in the chloride channel 1 (CLCN1) gene, which encodes a chloride channel essential for normal muscle relaxation.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 16 |
| Mutation | c.2423_2430dup |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
Informazioni generali
Myotonia Congenita is a hereditary muscle disorder caused by mutations in the chloride channel 1 (CLCN1) gene, which encodes a chloride channel essential for normal muscle relaxation. The mutation disrupts chloride ion flow in muscle cells, leading to delayed relaxation after contraction. As a result, affected dogs develop episodes of muscle stiffness and increased muscle tone. In the French Bulldog, this condition is inherited in an autosomal recessive manner, and signs typically begin at around 2–3 months of age.
Caratteristiche cliniche
Affected dogs show delayed muscle relaxation, resulting in a stiff or stilted gait, difficulty rising after rest, and noticeable muscle hypertrophy. Puppies may display a “goat‑like” hopping gait, generalized stiffness, or trembling when excited or startled. Additional signs can include difficulty swallowing (dysphagia), excessive salivation, abnormal vocalization, and louder breathing due to involvement of the throat muscles. Symptoms usually appear between 2–3 months of age and may persist throughout life. Although the condition is not typically painful, the stiffness and swallowing difficulties can impact mobility, comfort, and overall quality of life.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 38473107
Year published: 2024
Omia ID: 698
Omia variant ID: 1678