Management

As many health or developmental problems are not obvious straight away, your 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.