Living with Brain-lung-thyroid syndrome
A group of conditions affecting the brain, lungs, and thyroid, most often with movement problems.
Understanding Brain-lung-thyroid syndrome
About 50 percent of people have problems with all three organs, 30 percent have brain and thyroid problems, 10 percent have brain and lung problems, and 10 to 20 percent have only brain problems. Nearly everyone has movement problems, most commonly benign hereditary chorea (jerky movements). These usually start around age 1 and often stay stable or improve.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Jerking movements (chorea) and writhing movements
- Poor coordination (ataxia)
- Low muscle tone in infancy
- Breathing difficulty in newborns
- Underactive thyroid from birth
- Delayed walking
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, genetic specialists, hormone specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in NKX2-1 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); Hormone specialists (endocrinologists); Lung and breathing specialists (pulmonologists)
- 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 The MAGIC Foundation
- 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
Changes in the NKX2-1 gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: brain lung thyroid syndrome; choreoathetosis and congenital hypothyroidism with pulmonary dysfunction; choreoathetosis with congenital hypothyroidism and neonatal respiratory distress syndrome; choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome; choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress; choreoathetosis, hypothyroidism, and neonatal respiratory distress
Patient organizations
- The MAGIC FoundationBrain-lung-thyroid syndrome · United States
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