Burmese Lysosomal Storage Disease, GM2
The disease we refer to as GM2 is a gangliosidoses which is a class of inherited diseases known as "lysosomal storage diseases", so-called because they are characterized by the accumulation of unprocessed material in enlarged lysosomes. The cell is missing an enzyme that helps clear waste products out of the cell. The waste products accumulate inside the cell itself and then cause permanent cell damage. The cells affected are the neurons therefore, the symptoms are of a neurological nature. The symptoms first appear around 6 to 8 weeks of age and what you will notice is a very slight tremor, usually of the head. Prior to this, the kitten will appear normal in every way and is affectionate and playful. This is a progressive, fatal condition and these tremors will become more pronounced as the kitten ages. They are called "intention" tremors, meaning that they are most obvious when the kitten is trying to do something. When the kitten is resting, the tremors are less obvious. As the disease advances and the tremors become more intense, the kitten will spend more time resting. By the time the kitten is 14 to 16 weeks old, the disease has usually progressed to the point where the kitten will have difficulty walking, getting into a litter pan and even eating. The kitten should be humanely euthanized at this point.
This disease is an autosomal recessive trait and is manifested only when both parents carry the gene. A cat that is a carrier of the disease will never show symptoms of the disease. And, if bred to a noncarrier cat, will never produce offspring with the disease. Statistically, 50% of the kittens produced by such breeding will, themselves, be carriers of the disease too. If a carrier is bred to a carrier, statistically 25% of the kittens will be affected with the disease, 50% will be carriers and 25% will be noncarriers.
There is a DNA test available that will detect the presence of the GM2 gene. It was developed by Dr. Henry Baker of the Scott-Ritchey Research Center at the Auburn University College of Veterinary Medicine. By testing for the gene and knowing your cat's carrier status, you can avoid ever producing an affected kitten and, ideally, you can move forward to eliminating all carriers from your breeding program.
PawPeds has in cooperation with a breed club worked out a health program against Burmese GM2 starting on 15 April 2009. All breed clubs and other interested cat clubs are very welcome to join the program!
Clubs/groups presently participating in this health program:
The Burmese Lysosomal Storage Disease Data Exchange Group (LSD-DEG)
This is a Yahoo! group. The LSD-DEG is open to any Burmese breeder who has the desire to help eventually eradicate the LSD gene from our breed by working together with other breeders who share this goal. You will get more information and could join the group by emailing