Living with Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
A rare, severe genetic brain condition beginning in infancy with delayed development, seizures, low muscle tone, and vision nerve damage.
Understanding Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
It is a severe early-onset neurodegenerative condition. Main features are delayed development or loss of skills, seizures, shrinking of the brain's outer layer, and a thin corpus callosum. Other features include a head that grows slowly (secondary microcephaly), low muscle tone, stiff muscles, optic nerve damage, and bone differences. It begins in the newborn and infant years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delays in overall development
- Seizures
- Low muscle tone in infancy
- Stiff muscles (spasticity)
- Little or no speech
- Feeding difficulties
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, eye disease specialists, genetic specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TBCD are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with The TBCD Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the TBCD gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: early-onset progressive diffuse brain atrophy, microcephaly, muscle weakness, optic atrophy syndrome; encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; pebat; pebat
Patient organizations
- The TBCD FoundationEarly-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome.
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