TBCD (also sometimes referred to in literature as PEBAT, TBCD leukodystrophy, TBCD Disorder, or Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome) is a severe and often progressive genetic disorder affecting the brain, spinal cord, and often other parts of the body. It is characterized by a variety of symptoms, which exist along a spectrum across individuals. The specific symptoms of TBCD Disorder often include:

• Global developmental delays
• Microcephaly
• Hypotonia
• Difficulty swallowing
• Epilepsy
• Intellectual disability
• Vision problems
• Thin corpus callosum and a lack of myelination in the brain

Diagnosis often involves a combination of clinical evaluation, magnetic resonance imaging (MRI) of the brain, and genetic testing to identify mutations in the TBCD gene. Treatment is generally supportive and symptomatic, focusing on managing symptoms and enhancing quality of life, as there is currently no cure for TBCD mutations. If you suspect that your child has TBCD disorder, push for diagnosis via a full exome sequencing. Most standard microarrays will not find a TBCD mutation.

Given the rarity of this disorder, information may evolve as more research is conducted, so it's always a good idea to consult with a healthcare provider or a genetic counselor for the most current and personalized information.