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Australian Labradoodle Dystrophinopathy is a variant of the sex-linked muscle disorder Duchenne Muscular Dystrophy (DMD) specific to the Australian Labradoodle.
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Specifications
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | DD-MD, X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy, DMD |
| Year Published |
General information
Australian Labradoodle Dystrophinopathy is a variant of the sex-linked muscle disorder Duchenne Muscular Dystrophy (DMD) specific to the Australian Labradoodle. Like other forms of DMD, Australian Labradoodle Dystrophinopathy causes damage to the skeletal and cardiac muscles and ultimately death. It is caused by a recessive mutation to the DMD gene.
Clinical features
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
References
Pubmed ID: 30286978
Omia ID: 1081
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