Supportive treatment of clinical symptoms, such as seizures, is indicated.
Evaluation of head circumference, neurological status, developmental assessment, and brain imaging are recommended in all individuals diagnosed with a pathogenic variant in TUBB2A to establish the extent of disease and patient needs.
In addition, assessment of musculoskeletal functions (gross and fine motor skills, contractures, mobility, etc), gastrointestinal symptoms (nutritional status, constipation, etc.), vision and hearing should be considered.
Examination should be repeated regularly for early detection of deterioration of clinical status.
Currently, no curative treatment is available for individuals affected by pathogenic variants in the TUBB2A gene.
TUBB2A