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H912

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.

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Caractéristiques

Breeds

Gene

Organ

specimen

Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu

Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans. The disorder leads to a gradual breakdown of the dog’s muscles and is ultimately fatal. The disease is caused by an X-linked recessive mutation in the DMD gene. As an X-linked recessive disease, it primarily affects male dogs, while females may mostly be carriers.

This specific variant of the disorder is found in the Border Collie.

Caractéristiques cliniques

Clinical signs typically appear between 8 and 10 weeks of age. Affected dogs show progressive muscle weakness and wasting, especially in the limbs and trunk. Common symptoms include a stiff or abnormal gait, difficulty walking, running, jumping, or standing. As the disease progresses, muscles involved in chewing, swallowing, and breathing may also be affected, leading to excessive drooling, feeding difficulties, and potential respiratory complications.

Additional Information

Références

Pubmed ID: 29843823

Omia ID: 1081

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