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.
EML1