Management
As many health or developmental problems are not obvious straight away, the child will need to be checked by their pediatrician at diagnosis and then during childhood. The list below includes many of the common problems, but others may arise. If you have any concerns about your child’s health, please speak with your family doctor (GP) or pediatrician.
Universal problems to date in males include low muscle tone, delayed walking age 2-3, and speech delay. Hypotonia appears to be linked to proximal weakness and hyperreflexia. Some males have had relative macrocephaly (large head) and a longer face and tall forehead as adults. Developmental care should concentrate on physiotherapy and communication. There is no evidence of reduced lifespan in the families reported to date.
Genetic Counselling
The SLC9A7-related variant (p.L515F) has an X-linked inheritance pattern.
If the pathogenic variant occurred de novo (new) in the patient (i.e. it was not detected in the parents), the recurrence risk in subsequent pregnancies of the proband’s parents is generally low (<1%). Female members of the same family (e.g. aunties, nieces or female cousins on the mother’s side) may show few or no symptoms even though they may carry a SLC9A7variant. The diagram below shows what can happen when a female who is carrying a SLC9A7variant has children. The genetic ‘carrier’ may pass the variant on to her children, who could then have a SLC9A7-related condition. Prenatal diagnosis is possible, if requested by the parents.
