There is currently no specific treatment for individuals with FIG4 variants.
Individuals with BTOP, CMT4J and ALS11 should have a complete neurological assessment following initial diagnosis. Treatment is symptomatic.
Individuals with YVS should receive symptomatic and supportive therapies. Feeding or breathing difficulties should be closely monitored. In addition, these evaluations should be considered following initial diagnosis:
• Developmental assessment
• Dental examination
• Skeletal survey
• Orthopaedics and plastic surgery consultations as indicated
• Neurology consultation, with brain imaging as indicated
• Echocardiography
• Hearing assessment
• Ophthalmology consultation
FIG4