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Muscular Dystrophy is a hereditary neuromuscular disorder caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | X |
| Mutation | c.3371_3372insA |
| Tipo di Ereditarietà | Legato al comosoma X, recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | DD-MD; X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy; DMD |
Informazioni generali
Muscular Dystrophy is a hereditary neuromuscular disorder caused by mutations in the Duchenne Muscular Dystrophy (DMD) gene. This gene encodes dystrophin, a protein essential for maintaining the structural stability of muscle fibres. Without functional dystrophin, muscle cells become fragile and gradually degenerate, leading to chronic muscle weakness and muscle wasting. In the French Bulldog, this condition is inherited in an X‑linked manner, meaning male dogs are typically more severely affected.
Caratteristiche cliniche
Clinical signs generally begin within the first months of life. Affected puppies may show progressive muscle weakness, difficulty walking, a stiff or abnormal gait, frequent falls, and reduced exercise tolerance. As the disease progresses, dogs can develop pronounced muscle atrophy, difficulty swallowing (dysphagia), excessive drooling, and respiratory problems due to weakening of the muscles involved in breathing. These signs worsen over time and can severely affect mobility, breathing, comfort, and overall quality of life. When quality of life is greatly reduced, euthanasia is often considered the most humane option.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 37628610
Year published: 2023
Omia ID: 1081
Omia variant ID: 1616