BRAT1

Management

Currently, there are no specific consensus-based guidelines or recommendations for clinical care related to BRAT1 related disorder.

Treatment of manifestations
Treatment of manifestations is largely supportive.

In those with RMFSL phenotype, sub-speciality care may be required, including but not limited to, an epileptologist (to help manage seizures), cardiologist and pulmonologist (to help manage apnea, bradycardia), and gastroenterologist (to help manage feeding difficulties).

Those with the milder phenotype (who have a presentation of global delay/intellectual disability and ataxia) should receive speech and language therapy, physical therapy, occupational therapy, and special education, based on their specific needs.

Hippotherapy and aquatherapy may be helpful for addressing axial hypotonia, while augmentative alternative communication may be helpful for individuals with limited spoken language.

Surveillance
In addition to regular evaluations by specialists indicated above, affected individuals should undergo routine examinations with ophthalmology and periodic monitoring of hips and spine with orthopaedics.