When you or someone you love is diagnosed with a rare disease, it can bring up a lot of questions and concerns.  

Mucopolysaccharidosis type III

Mucopolysaccharidosis type III (MPS III), also known as Sanfilippo syndrome, is a progressive disorder that primarily affects the brain and spinal cord (central nervous system). It is characterized by deterioration of neurological function (neurodegeneration), resulting in many of the features of the condition. Other body systems can also be involved, although the physical features are usually mild in the early stages.

Frequency – Causes – Inheritance Pattern – Diagnosis & Management Links – Other Names for This Condition – Additional Information & Resources

GM1 gangliosidosis

GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs and symptoms first appear. Although the three types differ in severity, their features can overlap significantly. Because of this overlap, other researchers believe that GM1 gangliosidosis represents a continuous disease spectrum instead of three distinct types.

Frequency – Causes – Inheritance Pattern – Diagnosis & Management Links – Other Names for This Condition – Additional Information & Resources

Fragile X syndrome

Fragile X syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females.

Frequency – Causes – Inheritance Pattern – Diagnosis & Management Links – Other Names for This Condition – Additional Information & Resources