Muscular Dystrophy. Duchenne type (MDM) H419

Background

Duchenne muscular dystrophy (DMD) is a dystrophin-deficient lethal muscle disease. The catastrophic muscle wasting phenotype has been seen in dystrophin-deficient humans and dogs. Duchenne-like symptoms have been observed in many dog breeds.

Test specific information

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Age

Symptoms will develop at a young age. Within a few hours to a maximum of several weeks after birth, the characteristics that go with these genetic effects will become visible.

Throughput

Normally the result can be expected within 15 working days. This turn-around-time starts when both the sample and the fully filled-out and signed submission form have been received.

Location of disease or trait

This disease leads to a loss of brain function.

Breed dependence

This DNA test is available for the following breeds: Welsh Corgi.

Sample type

For this DNA test we accept the following materials: Blood EDTA, Blood Heparin, Tissue, Swab, Semen. Please contact PharmaDNA if you wish to submit other material as listed.

Result

The following results are possible for a female: the mode of

Inheritance

is based on recessive or dominant patterns.The following results are possible for a male: - A male animal has the sex chromosome Y and a healthy allel. When used in breeding, this animal will not become affected by the disease, nor will the disease be inherited to the next generation. - A male animal has the sex chromosome Y and a disease allel. When used in breeding, this animal will become affected by the disease. Also, male offspring will receive the Y-chromosome, whereas female offspring will receive the disease allele.

Inheritance

The disease is inherited in an X-chromosomal manner. This means, that female individuals can be free (homozygous normal), affected (homozygous affected) or carrier (heterozygous). Male individuals carry only one copy of the X-chromosome, which results in the effect that male carriers will also be affected. Female carriers may spread the disease in a population without showing symptoms themselves. Because of this, it is extremely important to identify carriers correctly to prevent spreading of a disease.

Severity of Disease

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