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H759

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

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

Dystrophin-Deficient Muscular Dystrophy (MD or DMD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy in humans. The disorder is severe and ultimately fatal, and causes progressive degradation of the dog’s muscles. It is caused by an X-linked recessive mutation to the gene DMD.

The variant of the disorder analysed in this test is found in the Australian Labradoodle. It is also occasionally known as Australian Labradoodle Dystrophinopathy.

Caractéristiques cliniques

Affected puppies develop symptoms of muscle decline as early as 3 months of age. Signs include decreased walking, a plantigrade (flat-footed) stance and a stiff or shuffling gait, difficulty swallowing, a swollen tongue, excessive salivation, weakness, weight loss and muscle atrophy. The disease progresses quickly, and death by heart failure can occur within several months of initial symptoms.

Additional Information

Références

Pubmed ID: 30286978

Omia ID: 1081

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