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Mucopolysaccharidosis Type IIIA

Breeds

General

Disease Name
Mucopolysaccharidosis Type IIIA
Mutation
c.686_687insA
Mutation 2
c.737_739delCCA
Test Type
Genetic Disease/Disorder
Details
Mucopolysaccharidosis Type IIIA is one of a group of eleven different genetic diseases known as the MPS disorders, and is considered a more 'severe' form. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, rapid decline in muscle control and coordination. 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 IIIA is one of a group of eleven different genetic diseases known as the MPS disorders, and is considered a more 'severe' form. The MPS disorders are all classified as lysosomal storage diseases. Signs include tremor, difficulty balancing and walking, head tilts, falling, generalized balance problems, rapid decline in muscle control and coordination. 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
Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB: Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics 68:80?84, 2000
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