Australian Labradoodle dystrophinopathy
Kodas: H759
Short description
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) in humans.
General information
Muscular Dystrophy (MD) is an X-linked muscular disorder, equivalent to Duchenne Muscular Dystrophy (DMD) 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 DMD gene.
The variant of the disorder analysed in this test is found in the Australian Labradoodle. It is also occasionally known as Australian Labradoodle Dystrophinopathy.
Specifications
| Breeds | |
|---|---|
| Gene | DMD |
| Chromosome | X |
| Mutation | c.2668C>T |
| Organ | Muscles |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | X-Linked Recessive |
| Also known as | DD-MD; X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy; DMD |
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.
References
Pubmed ID: 30286978
Year published: 2018
Omia ID: 1081
Omia variant ID:
Turnaround information
- 10 working days