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How to support your horse with PSSM 1, PSSM 2 or MFM

These are diagnoses that we, as horse owners, would rather not receive: PSSM 1, PSSM 2 (MIM) or MFM – we explain the key terms and give you useful tips for the right way to manage these conditions.

PSSM 1, PSSM 2 or MFM: you’ve certainly come across these abbreviations before, but what exactly do they mean, how are the conditions recognised, and how can you support your horse if diagnosed? Let’s start by going through the key definitions.

Key terms and definitions

PSSM

PSSM stands for polysaccharide storage myopathy and refers to a group of muscle disorders characterised by symptoms such as lameness, pain, stiffness and behavioural changes. A typical feature is the accumulation of abnormal sugar chains in the muscle. PSSM is currently divided worldwide into the categories PSSM 1 and PSSM 2. The term MIM, however, is only used in Germany.


PSSM 1

PSSM 1 was researched and scientifically explained in the early 2000s. It describes a hereditary polysaccharide storage myopathy caused by a mutation of the GYS1 gene. This means that the muscle storage sugar (glycogen) is not built up correctly. Instead, abnormally long and enzyme-resistant sugar chains are formed and stored. This damages the muscle cells and prevents the muscle from properly using the stored glycogen. Horses with PSSM 1 need grain-free, low-sugar feed rations in order to remain in good working condition. Diagnosis is made via a genetic test of the GYS1 gene.


PSSM 2

PSSM 2 encompasses various neuromuscular disorders that show symptoms similar to PSSM 1 but without a GYS1 gene defect. These horses often benefit from feed supplements containing small intestine digestible protein and many essential amino acids, and in some cases also from a grain-free diet.

PSSM 2 includes horses

  • with stable, abnormal sugar chains in the muscle (similar to PSSM 1, but without a GYS1 defect),
  • without abnormal sugar chains, but with the typical symptoms (cause still unknown),
  • with a disrupted structure of the cell skeleton, which is also a sign of the muscle disorder MFM. In horses, a clear distinction between PSSM 2 and MFM is often difficult.

A reliable diagnosis can only be made via a muscle biopsy and case history. The commercially available genetic test currently on offer is not validated.


MFM

MFM (myofibrillar myopathy) is also known in humans and is a hereditary, slowly progressive muscle disorder. It involves disrupted muscle structure or clumping of proteins (desmin). The gene variants P2 and P3 play a role in this. In PSSM 2 horses with typical symptoms but without abnormal sugar chains and with desmin clumping, the condition is referred to as MFM. However, the genetic variants P2 and P3 occur at different locations in horses than in human MFM. According to research, the genetic test for these variants in horses is not meaningful.

Optimum support for horses with PSSM 1

Even though the genetic defect cannot be repaired, good management, correct training and appropriate feeding can often have a very positive influence on the progression and symptoms. PSSM 1 was first discovered in Quarter Horses, but has since been identified in around 35% of all horse breeds, particularly in muscular, calm horse types such as Haflingers, Noriker horses and other cold-blood breeds. Symptoms can appear even in young horses. Affected horses require grain-free, low-sugar rations to remain capable of performing.

Symptoms: Light work is usually well tolerated, but more strenuous exertion leads to muscle damage and symptoms such as muscle pain, muscle cramps, stiffness, fatigue or complete refusal to work. Even a visit from the farrier can be enough to trigger such reactions.

Training: Besides the correct feed composition, management and exercise are also crucial. The environment should be as stress-free as possible, particularly during turnout. Regular but light exercise is important. Box rest, on the other hand, would be counterproductive for the sensitive muscles.

Feed: Horses with PSSM 1 need a low-carbohydrate, grain-free diet with plenty of hay and as little sugar as possible. Care should also be taken with sugar-rich grass and hay. Fat, on the other hand, provides good energy. In addition, an adequate supply of vitamin E (1,000 to 3,000 mg per day), vitamin C (>500 mg per day) and selenium (1.8 mg per day, but do not overdose) is important to support the antioxidant capacity of the muscle cells.

Unlike with PSSM 2, protein-rich feed is not essential for PSSM 1, but a high protein quality can also support the muscles here. Depending on energy requirements, either Faser-Light (for low energy) or Vito, MyoCare-Müsli or Getreidefrei-Mix (for high energy) from our marstall range are suitable, including for horses with EMS and Cushing’s (PPID).

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Grain-free muesli for all horses with metabolic issues – for leisure and sport horses
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€33.60
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Cereal-free feed for PSSM
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The right feed for horses with PSSM 2

PSSM 2 cannot be clearly attributed to one or several specific gene mutations. Researchers are currently discussing mutations in the genes P2, P3, P4, Px, P8 and K1, which are determined via a commercial genetic test. The severity of symptoms may possibly depend on which mutation is present, whether several genes are affected and whether the mutation is homozygous or heterozygous. However, diagnosis via the genetic test currently available is highly controversial and not validated.

Scientific studies show that the loci P2, P3, P4 are not meaningful for diagnosing PSSM2 or MFM. A renowned research group therefore warns of 40-57% misdiagnoses when using the genetic test to diagnose PSSM2 or MFM (Valberg et al. 2023). According to the latest findings, the Px variant also occurs very frequently in healthy control animals of affected breeds. Similarly, K1 and P8 are present in healthy animals (Durward-Akhurst, et al, 2024).

The research group doubts that these 6 loci can be the cause of PSSM2, particularly since none of these loci influence abnormal glycogen storage (Valberg, 2025).

PSSM 2 affects all horse breeds, but particularly lighter-muscled breeds with a higher proportion of blood such as warmbloods and Arabians. Affected horses typically show first symptoms at around 8 years of age.

Symptoms: PSSM 2 often presents with muscle tension, gait irregularities, reluctance to move, shifting lameness and behavioural changes. In severe cases, painful muscle wasting can occur, which may also be visible as grooves or muscle dimples. The course of the disease is episodic and progressive. Episodes often occur after operations, periods of rest due to injury, vaccinations or other stressful phases, particularly in connection with feeding low in protein.

Feed: The genetic defect can cause the body to require more protein to "improvise" muscle build-up. Affected horses therefore often benefit from a ration with an increased content of small intestine digestible protein. High-quality amino acids, particularly essential amino acids such as lysine, methionine and threonine, are important for muscle build-up.

Protein-rich feeds such as MyoCare muesli or the targeted provision of amino acid feed supplements, such as Amino-Muskel, greatly support the maintenance and rebuilding of muscles.

Although grain-free and low-sugar feeding is not always strictly necessary for PSSM 2, it is advisable. Adding omega-3-rich linseed oil is recommended. In addition, these horses require a slightly increased intake of magnesium, sodium chloride (salt) and plenty of vitamin E (over 2,000 mg per day).

Antioxidants such as vitamin E and C are considered particularly important for horses with the P8 mutation. In general, however, they support all types of myopathies. Trace elements such as zinc, manganese, copper and selenium (1.8 mg per day) should be fed in sufficient but not excessive amounts.

As a rule, PSSM 2 horses do not need to be restricted when it comes to grazing. However, caution is advised with sugar-rich grass and hay where necessary.

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Training: Training for horses with PSSM 2 should include longer warm-up and cool-down phases, as well as breaks for muscle relaxation. (Working phases should not exceed 15 minutes.) Patience and understanding from riders and carers are particularly important. If a PSSM 2 horse is exposed to as little stress as possible and is fed and kept ideally, it can remain free of symptoms or show only mild symptoms. It is therefore important to pay attention to stress-triggering conditions and events in its management.

MFM in horses

The muscle disease MFM is known from humans. Researchers suspect that some horses affected by PSSM2 could have an early form of MFM.

Symptoms: The symptoms of MFM are similar to those of PSSM2. Science has not yet been able to gain more precise insights here. Therefore, the current recommendations for feeding, management and training of horses with MFM align with those for horses with PSSM2. However, the focus here is on an increased level of high-quality protein and essential amino acids.

Sources and further information

McCue ME, Valberg SJ, Miller MB, Wade C, DiMauro S, Akman HO, Mickelson JR. Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics. 2008 May;91(5):458-66. doi: 10.1016/j.ygeno.2008.01.011. Epub 2008 Mar 20. PMID: 18358695; PMCID: PMC2430182.

Valberg SJ, Henry ML, Herrick KL, Velez-Irizarry D, Finno CJ, Petersen JL. 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. Equine Vet J. 2023 Mar;55(2):230-238. doi: 10.1111/evj.13574. Epub 2022 Apr 1. PMID: 35288976; PMCID: PMC10084132. Durward-Akhurst, S.A., Marlowe, J.L., Schaefer, R.J. et al. Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 14, 8396 (2024). https://doi.org/10.1038/s41598-024-57872-8

Valberg S. Diagnosis of muscle problems. Presentation at 12th EEHNC, Utrecht, 15 March 2025