Living with Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
A rare genetic brain condition beginning in childhood that gradually affects movement, thinking, and speech.
Understanding Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
It usually shows up in childhood and gets worse over time. It causes problems with movement and thinking, which can lead to intellectual disability and trouble with language and walking. Head size may fall behind over time. Brain imaging may show loss of brain cells in the cerebrum and cerebellum, and the corpus callosum may be affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Involuntary muscle contractions (dystonia)
- Muscle stiffness (spasticity)
- Loss of skills already learned (developmental regression)
- Slurred or hard-to-form speech (dysarthria)
- Trouble swallowing (dysphagia)
- Seizures
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 and genetic specialists.
- 3Consider genetic testing
Changes in UBTF are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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 UBTF gene cause this condition. It is autosomal dominant, so one changed copy of the gene can be enough.
Also known as: neurodegeneration, childhood-onset, with brain atrophy; ubtf-related disorder
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder.
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