Skip to main content

Address

Panerių g. 246
48454 Kaunas
Lithuania

Opening hours

  • Mon – Fri
    9 :00 – 17 00
  • Sat
    Closed    
  • Sun
    Closed   
Dog DNA testing illustration

Paroxysmal Dyskinesia (PD) – Markiesje

Code: H792

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

Search by our number or the laboratory number. An unmatched number is saved as a previous / external reference. No new physical sample is needed.
The add to cart button will appear once you select the values above

Short description

Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies.

General information

Juvenile Paroxysmal Dyskinesia (PD) is a severe genetic muscle and nerve disorder in the Markiesje, causing muscle cramps and extremely weak limbs in affected puppies. There is no effective treatment, and euthanasia is usually elected within three months of age. The disorder is caused by a recessive mutation to the SOD1 gene.

Specifications

Breeds

Markiesje
Gene

SOD1
Chromosome

31
Mutation

c.12delinsCAC
Organ

Nervous System
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Autosomal Recessive
Also known as

PD

Clinical features

Affected puppies present with severe tetraparesis (weakening of all four limbs), cramping and dystonia (involuntary and often repetitive muscle contractions). The condition deteriorates over a matter of weeks, and euthanasia on humane grounds is typically necessary.

References

Pubmed ID: 33677640

Year published: 2021

Omia ID: 2322

Omia variant ID:

Turnaround information

  • 15 working days