Gaucher's disease (GD) lasts the whole patient's life, but the clinical picture may vary significantly in different individuals from the severe disease starting in a newborn to the very mild disease uncoverd accidentaly in an adult.
Classicaly, GD is divided into three types according to the absence or presence of neurological symptoms and the dynamics of developing of clinical signs.
Type 1 – non-neuronopathic ('adult type')
Gaucher's disease type 1 (GD1) is the most common type of GD. The age of clinical presentation of GD1 varies between around 10-70 years of age. GD1 has a chronically progressive clinical course and may remain asymptomatic during many years. The N370S mutation is the most common one in the GD1.
Type 2 – acute neuronopathic ('infantile type')
This type of GD (GD2) has a very early onset (0-3 months of life) characterized by an agressive course with a serious neurological complications.
Type 3 – chronic neuronopathic ('juvenile type')
Type 3 Gaucher's disease (GD3) is very uncommon but in Sweden approximately 40 % of all GD patients is suffering from this type. The biggest group of patients with GD3 in Sweden lives in the northern part of the country (Norrbotten region and northern part of Västerbotten region) and that is why this type is called for 'Norrbottnian type'.
Patients and relatives
If you are the patient or a family member to the patient with Gaucher's disease, here you can find the information about Gaucher's disease.
