Living with Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
A genetic condition, also called TANGO2-related disease, with metabolic crises, muscle breakdown, and heart rhythm problems.
Understanding Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
A metabolic crisis involves low blood sugar and a buildup of harmful products in the blood. Crises are more likely after long gaps without eating or during illness. Most people have episodes of muscle breakdown (rhabdomyolysis), which can harm the kidneys. Other features include developmental delay, intellectual disability, seizures, hearing loss, low thyroid function, and poor coordination. Signs usually start in infancy or early childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle breakdown (rhabdomyolysis)
- Heart rhythm problems (arrhythmia)
- Delays in development and intellectual disability
- Seizures
- Poor balance and coordination (ataxia)
- Loss of developmental skills
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, heart and blood vessel specialists and seizure and epilepsy specialists.
- 3Consider genetic testing
Changes in TANGO2 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); Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); 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 TANGO2 Research 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
This condition is caused by changes in the TANGO2 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: mecrcn; metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration; recurrent metabolic encephalomyopathic crises, rhabdomyolysis, cardiac arrhythmia, intellectual disability syndrome; tango2 deficiency; tango2 deficiency disorder
Patient organizations
- TANGO2 Research FoundationRecurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
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