EML1

Management

Currently, there is no known cure for EML1-related disorders. Treatment of the manifestations, symptom management, and supportive care are recommended and can be managed by the appropriate specialty.

Attention should be given to:
•    Feeding difficulties, growth
•    Developmental support, rehabilitation
•    Muscle tone, spasticity
•    Presence of seizures
•    Presence of hydrocephalus, head growth
•    Ophthalmological evaluation

A paediatric neurologist, paediatrician, ophthalmologist, and rehabilitation specialist are usually involved, as well as a physical therapist, occupational therapist, and speech therapist. A neurosurgeon can be involved in case of hydrocephalus. A cardiac exam can be considered, especially in case of heart murmur.
The family should be referred to a clinical geneticist for genetic counselling.