Management
Treatment in a multidisciplinary team is recommended and is directed to the symptoms manifested by the patient.
Unfortunately, currently there is no curative treatment available.
Genetic Counselling
The autosomal dominant mental retardation-56 has an autosomal dominant inheritance pattern.
If the pathogenic variant occurred de novo in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is low (<1%), although it is slightly higher than for other couples in the general population due to the theoretical possibility of germline mosaicism.
A patient with a pathogenic variant in CLTC has a 50% risk (i.e. a probability of 1 in 2) of transmitting the same variant to his/her descendants.