Maine Coon Genetic Diseases: SMA & PK Def Explained#

When buying a kitten, everyone asks about HCM (Heart Disease). That is good. But if a breeder says, “We scan hearts,” but doesn’t mention SMA or PK Def, walk away.

These are the “Silent Killers.” They are specific genetic mutations found in the Maine Coon gene pool. The good news? Unlike heart disease (which is complex), these are simple “Yes/No” DNA tests. A breeder can guarantee your kitten won’t have them—if they test.

1. Spinal Muscular Atrophy (SMA)#

Think of this as “Kitten Parkinson’s.”

What it is: A neurological disease that kills the neurons in the spinal cord that control muscles.
The Symptoms: It starts early (3-4 months old). You will see a tremor in their back legs. The kitten will have a weird, swaying walk. They lose muscle mass in their hindquarters.
The Prognosis: It isn’t painful, and it isn’t fatal, but the cat will be disabled. They can’t jump or run like normal cats. They live indoors as “special needs” pets.

2. Pyruvate Kinase Deficiency (PK Def)#

This is a blood disease.

What it is: The cat lacks an enzyme that red blood cells need to survive. The red blood cells die too fast, leading to anemia.
The Symptoms: Lethargy, pale gums, weakness. It comes in waves. One month the cat is fine; the next, they are exhausted.
The Risk: In severe cases, it leads to liver failure and death.

A Maine Coon kitten sitting next to a genetic DNA testing kit — Simple DNA swabs can prevent a lifetime of disability. Always ask to see the parents' SMA and PK Def results.

The Breeding Code (N/N)#

When looking at a breeder’s website, look for these codes next to the parents’ names:

N/N (Negative): The cat is safe.
N/SMA (Carrier): The cat is healthy but carries the gene. They should only be bred to a Negative cat.
SMA/SMA (Affected): The cat has the disease. Never buy from a breeder breeding Affected cats.

Conclusion#

These diseases are 100% preventable. If you are paying $2,500 for a kitten, you are paying for the guarantee that they don’t have this. Demand to see the “Wisdom Panel” or “UC Davis” reports.

Resources & Further Reading#

UC Davis Veterinary Genetics: SMA in Maine Coon Cats.
Langford Vets: PK Deficiency Testing.