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Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related

General

Disease Name
Spongy Degeneration with Cerebella Ataxia Subtype 1, KCNJ10-related
Mutation
c.627C>G
Mutation 2
c.986T>C
Test Type
Genetic Disease/Disorder
Details
Ataxia seems to come in breed-related, or breed-specific types. It is characterized by uncoordinated movements, and can have a range of other movement-related symptoms. For this version, two types are described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Details 2
Ataxia appears to manifest in breed-related, or breed-specific forms. Ataxia is characterized by uncoordinated movements, and can have a range of other symptoms. For this gene, there are two forms described: Spinocerebellar ataxia with myokymia, seizures, or both (SAMS), and Spongy degeneration with cerebellar ataxia 1 (SDCA1). SAMS appears to relate to Russell terrier groups, with an average age of onest of the cerebellar ataxia between 2-6 monts. With the myokymia element, this range goes to 3-8 months. SDCA1 occurs in Belgian Malinois dogs and has an earlier age of onset than SAMS, between 4-13 weeks of age. Affected dogs showed shivering or twitching, and were unable to start walking without falling. Some dogs experience hearing (auditory) changes.
Published
Gilliam, D., O'Brien, D.P., Coates, J.R., Johnson, G.S., Johnson, G.C., Mhlanga-Mutangadura, T., Hansen, L., Taylor, J.F., Schnabel, R.D. : A homozygous KCNJ10 mutation in Jack Russell Terriers and related breeds with spinocerebellar ataxia with myokymia, seizures, or both. J Vet Intern Med 28:871-7, 2014. Pubmed reference: 24708069. DOI: 10.1111/jvim.12355.

Breed Specific Info

Researched Breeds
Smooth-Haired Fox Terrier, Belgian Shepherd, Jack Russell Terrier, Belgian Malinois, Parson Russell Terrier, Russell Terrier
Breed-specific 1
Smooth-Haired Fox Terrier
Breed-specific 1 Details
c.627C>G
Breed-specific 2
Belgian Malinois
Breed-specific 2 Details
c.986T>C
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