About GM1

GM1 Gangliosidosis is a rare disease.  It is an  autosomal recessive lysosomal storage disease.  This category of diseases includes more than 50 conditions.

GM1 Gangliosidosis robs children of nearly every skill and bodily function required to live. An insufficient amount of the enzyme beta-galactosidase is produced by the body.  This dysfunction results in cell death, particularly in extremely fragile neurons and spinal cells.

Many of the children lose the ability to speak, to swallow, and to move their limbs. Some become blind and deaf. The list of possible complications is truly scary.

There are 3 classifications that represent a spectrum of severity.  The classifications vary with respect to age of onset and life expectancy.  The signs and symptoms of the disease overlap across the 3 types :

  • Type 1, also called Infantile, most severe, most common
  • Type 2, includes Late Infantile and Juvenile
  • Type 3, Late or Adult Onset, thought to occur mainly in Japan, often misdiagnosed as Parkinson’s

The brain is the control center for the body.  The body can not function properly with a brain under attack. Seizures eventually consume the mind and body. Many of the children succumb to pneumonia due to weakened immune systems and respiratory complications after a prolonged fight for their lives.