LAMB1 Autosomal Dominant


There is currently no treatment.
The search for and management of possible vascular risk factors such as high blood pressure must be carried out. Prescription of an antiplatelet agent is not recommended at this time in the absence of sufficient data on cerebral ischemic and hemorrhagic risk. A detailed cognitive assessment is necessary to determine the type of rehabilitation that can be considered.

Genetic counselling:
These end-truncating mutations in LAMB1 are inherited in an autosomal dominant. The risk of transmission to the descendants of a patient carrying a heterozygous mutation in 50% for each pregnancy. However, the penetrance is unknown so far, precluding any relevant presymptomatic diagnosis.