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Mucopolysaccharidosis Type VI

Breeds

Relevance Rating: Unknown, not evaluated or no evidence for test for these breeds

General

Disease Name
Mucopolysaccharidosis Type VI
Mutation
A single missense mutation (G to A) occurring in exon V
Mutation 2
c.103_124del
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type VI is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur. The disease is progressive. Age of onset varies, but normally early adulthood. The clinical signs in the dogs have been reported to appear between 2-4 years of age. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Details 2
Mucopolysaccharidosis Type VI is one of a group of eleven different genetic diseases known as the MPS disorders. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, skeletal anomalies, extreme joint laxity, growth retardation, corneal opacity, and heart murmur. The disease is progressive. Age of onset varies, but normally early adulthood. The clinical signs in the dogs have been reported to appear between 2-4 years of age. Dogs euthanized usually within 1-2 years after onset of clincial signs. May be associated with changes to coat colour, but this is unconfirmed at time of writing.
Published
Foureman, P., Berman, L., Stieger, K., Van Hoeven, M., Ellinwood, N. M., Haskins, M. E., Kirkness, E., Giger, U. : Mucopolysaccharidosis type VI in miniature pinschers: Screening for the mutation Journal of Veterinary Internal Medicine 18:408-409 (abstract), 2004.
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