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A DNA test for Globoid Cell Leukodystrophy (GCL) in dogs
What is Myotonia Congenita?
A DNA test for Myotonia Congenita
The University of Pennsylvania, School of Veterinary Medicine, discovered the
molecular defect causing Myotonia Congenita in Miniature Schnauzers
and developed DNA tests to detect affected animals and carriers. The disorder
is inherited as an autosomal recessive trait.
Breeders should consider screening their animals for the presence of carriers.
Any Miniature Schnauzer that exhibits one or more of the before mentioned
clinical signs should be tested for Myotonia Congenita.
Applying the DNA test allows breeders to classify their potential breeding
animals at a young age as genetically healthy ("clear"), "carrier" or "affected"
in order to select effectively against the genetic disorder.
The Myotonia Congenita DNA test yields three possible outcomes:
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Your dog is clear (and has two healthy alleles: MC/MC),
it will not suffer from Myotonia Congenita and, just as important,
it will not pass on the defect (the defective allele) to the next generation.
-
Your dog is a carrier (and has one healthy allele and one defective one:
MC/mc), it will not suffer from Myotonia Congenita but it
will pass on the defective allele to half of its offspring.
-
Your dog is affected (and has two defective alleles: mc/mc),
it will pass on the defective allele to all of its offspring in the next
generation and it will be expected to experience the disadvantages of
ongoing storage of polysaccharides in its cells. So it is one of the animals
that will suffer from Myotonia Congenita.
Breeds at risk
Breeding policy
Testing for Myotonia Congenita
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