LABOKLIN (UK)| Genetic Diseases | Horses| PSSM (Polysaccharid Storage Myopathy)
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PSSM (Polysaccharid Storage Myopathy)

Test number: 8138 (this test number replaces the old 8138HGD)
Gene: P
Price: £ 48.00 (including VAT)
All Horse Breeds , American Paint Horse , Appaloosas , Draft Breeds , Quarter Horse (Horse with quarter horse blood) , Warmblood .
The Disease
PSSM is a debilitating up to even life-threatening glycogen storage myopathy which is highly prevalent in multiple breeds of horses. Primarily affected are QHs, American Paint Horses, Appaloosas, but also Draft Horses and Warmbloods and crossbreeds of all of them. The hallmark of PSSM is the accumulation of abnormal polysaccharides within the muscles as well as the abnormal accumulation of glycogen.
Clinical Signs
PSSM-horses show signs typically associated with tying-up: reluctance to move, muscle-tremor, muscle stiffness, sweating, shifting lameness, stretching of the hindlegs and inability to move. Episodes usually begin after 10 to 20 minutes of light exercise. Muscles of the most affected hind quarters are firm and hard or even painful. Many of the horses have an anamnesis of repeated episodes of muscular problems. With severe symptoms the disease can result in a myoglobinuria and possibly renal problems. All together, PSSM is thought to be responsible for a large portion of neuromuscular diseases in affected breeds
Trait of Inheritance
A horse inherits one copy of the gene from each parent, a normal gene is abbreviated as N while a mutant gene is abbreviated as P. in dominant inheritance, if one of the genes is mutant (P/N) the horse is expected to be affected by the PSSM. If the two inherited genes are mutant (P/P) the horse is homozygous and is expected to show severe signs of the disease.

Inheritance : AUTOSOMAL DOMINANT trait

PSSM mutation in the GYS1-gene (PSSM1)

The genetic defect leading to the disease has been identified. By DNA testing, the responsible mutation can be shown directly. This method provides a very high accuracy test and can be done at any age. It offers the possibility to distinguish not only between affected and clear horses. This is an essential information for controlling the disease.

Please note that our test detect the mutation in the GYS1 gene which iassociated with PSSM symptons, however, there are other causes of PSSM which cannot be ruled out by this test.

our test is known as PSSM1, For clarity, the form of PSSM caused by a glycogen synthase 1 (GYS1) gene mutation is now termed type 1(PSSM1) whereas the form or forms of PSSM that are not caused by the GYS1 mutation and whose origin is not yet identified, are now termed type 2 (PSSM2). Our test detects only PSSM1.

our test does not detect the, yet unknown, PSSM2

Sample Requirements
Hair Sample from mane with roots (approx 30 hairs) , Buccal Swabs or 1 ml whole blood in EDTA tube.

How to obtain a viable hair sample

Pull around 30 hairs from the mane of the horse with the roots (in faols hair from the tail maybe taken). Wrap the hairs around your finger or a comb, as close as possible to the skin to ensure you obtain the hair roots. Keep dry, put in a bag, label the bag with the horse name, test (s) required. Place in an envelope and send back to us together with the order form. Broken or cut off hair will not be accepted.
1-2 weeks
£ 48.00 (including VAT)

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