Management

With only four cases reported globally, there is not much data available on the management of the disorder.
An audiology assessment to detect sensorineural hearing loss is recommended. In cases suspected to have inner ear malformation an MRI or CT of temporal bones in advisable. An ophthalmology assessment is indicated in presence of lack of facial mimicry and eye blinking.

A permanent cure for the disease is unavailable at present and management solely depends on symptomatic treatment taking into consideration of various phenotypic presentation of the affected individual.
These would include (1) physiotherapy in cases with hypotonia, ataxia (2) occupational therapy to manage delayed development (3) hearing aid implantation to treat hearing loss.