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Duchenne Muscular Dystrophy (Pembroke Welsh Corgi Type)

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Test Overview:

Duchenne Muscular Dystrophy affects dogs and is an inherited disease. Dogs affected with this disease are unable to produce adequate amounts of a specific protein that is responsible for muscle relaxation. and contraction. The clinical sigs for this disease are shift or shuffling gait, generalised muscle atrophy, exercise intolerance, difficulties standing and over flexion of ankle joints. Dogs often have difficulties feeding and my drool. Dogs with this disease are usually much smaller than their other littermates by 6 weeks of age. The cardiac muscles of affected dogs are also compromised, potentially resulting in clinical heart disease.

Category:

Musculoskeletal - Associated with muscles, bones and associated structures

Gene:

DMD

Variant Detected:

chrX:27721607-27721608 (canFam3): Approx. 480 bp insertion 1048 bp into intron 13 of the dystrophin gene

Severity:

Moderate-Severe. This is a disease with significant welfare impact on the affected animal, in terms of clinical signs and generally reduced life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Immunofluorescence microscopy on the vastus lateralis (VL) and CT muscles

Research Citation(s):

Smith BF, Yue Y, Woods PR, Kornegay JN, Shin JH, Williams RR, Duan D. An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest. 2011 Feb;91(2):216-31. [PubMed: 20714321]

Associated Breed(s):

Pembroke Welsh Corgi,

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