Synonyms: TANGO2-related metabolic encephalopathy-arrhythmia syndrome
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare genetic neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness ataxia seizures cardiac arrhythmias rhabdomyolysis with myoglobinuria elevated plasma creatine kinase hypoglycemia lactic acidosis increased acylcarnitines and a disorientated or comatose state. Global developmental delay intellectual disability and cortical pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2026
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Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome?
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Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
Genetic Support Network of Victoria
The Genetic Support Network of Victoria is an organisation that supports people living with genetic, undiagnosed and rare conditions and those who support them including community and families, patient support organisations, health professionals and industry. Our vision is our community flourishing and living their best lives.
Heart of a Giant Foundation
The mission of the HGF is to achieve better health outcomes for heart diseases and related chronic health conditions in our communities and enhance the quality of life through health education, care support, and connection to community resources.
KIF1A.ORG
KIF1A.ORG is a global community dedicated to improving the lives of those affected by KIF1A Associated Neurological Disorder (KAND) and accelerating research to find a cure.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
RareDNA Foundation
Dedicated to improving outcomes for individuals and families affected by rare DNA heart mutations by advancing awareness, access and action. We increase awareness among medical professionals and the public, provide education and resources on diagnosis and treatment, support scientific research, and advocate for faster diagnostic pathways, giving families the knowledge and care they need.
Resilient Parent Consulting
Resilient Parent Consulting offers compassionate support and practical guidance to caregivers of children with specialized medical needs. Through a social-emotional lens and psychoeducation, we empower parents with effective strategies to reclaim balance and foster resilience within the family, guiding them to discover their new normal, navigate intricacies, find clarity, and cultivate strength.
TANGO2 Research Foundation
Our mission is to lead the way in finding a cure for TANGO2 deficiency disorder.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.