The condition presents with attacks and remissions. Dementia associated with brain blood flow may occur. Some women who carry the condition may suffer from pains, but other complications in women are rare. Inheritance patterns X-linked males present with symptoms. Female carriers occasionally present mild symptoms.
Genetic counselling is available for affected families.
Chorionic villus sampling is possible at ten to twelve weeks. The Group is a National Registered Charity No. 328184 established in 1989. It acts as a small Contact Group. We are a main source of information about rare disorders and are able to assist affected adults as well as children.