07/04/2023
Good to see posts about PSSM 2 and MFM in order to raise awareness.
I have mentioned these conditions before in my posts, and have definitely seen improvement through modifications in diet and exercise.
Looking forward to more research and validated tests in the future.
TESTING FOR TYPE 1 (PSSM1) AND TYPE 2 (PSSM2) POLYSACCHARIDE STORAGE MYOPATHY IN HORSES
PSSM1 horses usually present with symptoms of “tying-up”, i.e. reluctant to move, muscle stiffness, pain, discoloured (dark) urine and high CK and AST (muscle enzymes) in plasma. The condition is caused by defective muscle glycogen storage due to a genetic defect (mutation) in the glycogen synthase enzyme gene (GYS1). PSSM1 can be suspected based on clinical signs and a muscle biopsy but definitive diagnosis requires genetic testing.
PSSM2 is similar to PSSM1 in that horses may present with tying-up, although this can be severe, moderate or mild. Moderate and mild cases of PSSM2 may be challenging to diagnose. Currently, in contrast to PSSM1, there is no validated genetic test for PSSM2. There are companies offering these tests based on hair or blood samples but they have not been shown to be accurate. In fact they have been shown to be inaccurate. The mutations involved in the genes that cause PSSM1 are not found in horses with PSSM2.
Dr Stephanie Valberg has committed her life’s work to equine myopathies and is a leader in this field. Unfortunately, despite her peer-reviewed and published research there are those that refuse to accept the current position based on evidence, even to the extent of attacking her and condemning her research.
➡ If you suspect your horse has PSSM1 or PSSM2 then you are advised to contact your vet.
➡ If you want to learn more there are many good resources.
➡ If you suspect your horse may have PSSM2 then there is no harm in managing them as if they have to see if the symptoms improve, including avoiding rest days, gradual increase in workload, extended warm-up time, low sugar/starch diet, etc.
➡ At this stage there is little to be gained from undertaking unvalidated genetic tests for PSSM2
If you are interested in learning more about equine myopathies, we have a webinar by Dr Stephanie Valberg which clearly explains PSSM1, PSSM 2 and Myofibrillar Myopathy (MFM) https://drdavidmarlin.com/muscle-disease-pssm-1-2-and-mfm-by-dr-stephanie-valberg/ and a webinar by Internal Equine Medicine Specialist Dr Kirstie Pickles on “tying-up” https://drdavidmarlin.com/managing-horses-that-tie-up/
N.B. I am aware this is a contentious issue and many people hold strong views. If you interact innapproriately then this will not be tolerated. Please afford everyone RESPECT!
References
Clinical characteristics and muscle glycogen concentrations in warmblood horses with polysaccharide storage myopathy (2017) Lewis et al.
https://pubmed.ncbi.nlm.nih.gov/29076373/
Muscle glycogen concentrations and response to diet and exercise regimes in Warmblood horses with type 2 Polysaccharide Storage Myopathy (2018) Williams et al.
https://pubmed.ncbi.nlm.nih.gov/30183782/
Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis (2021) Valberg et al.
https://pubmed.ncbi.nlm.nih.gov/32896939/
Type 2 polysaccharide storage myopathy in Quarter Horses is a novel glycogen storage disease causing exertional rhabdomyolysis (2022) Valberg et al. https://pubmed.ncbi.nlm.nih.gov/36102343/
Absence of myofibrillar myopathy in Quarter Horses with a histopathological diagnosis of type 2 polysaccharide storage myopathy and lack of association with commercial genetic tests (2023) Valberg et al.
https://pubmed.ncbi.nlm.nih.gov/35288976/