TANGO2 related disease: management

Evidence-based neurology checklist on tango2 related disease: management: Genetic analysis Gene panel Exome sequencing Cardiac tests Magnetic resonance imaging (MRI) brain: features Muscle biopsy Other tests Treatment of crises Other treatments Acronym

Genetic analysis

  • Gene panel
  • Exome sequencing

Cardiac tests

Magnetic resonance imaging (MRI) brain: features

Muscle biopsy

Other tests

Treatment of crises

Other treatments

Acronym

References

  1. Milev MP, Saint-Dic D, Zardoui K, et al. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria. J Inherit Metab Dis 2021; 44:426-437.
  2. Dines JN, Golden-Grant K, LaCroix A, et al. TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. Genet Med 2019; 21:601-607. 
  3. Hoebeke C, Cano A, De Lonlay P, Chabrol B. Clinical phenotype associated with TANGO2 gene mutation. Arch Pediatr 2021; 28:80-86. 
  4. Mingirulli N, Pyle A, Hathazi D, et al. Clinical presentation and proteomic signature of patients with TANGO2 mutations. J Inherit Metab Dis 2020; 43:297-308. 
  5. Schymick J, Leahy P, Cowan T, et al. Variable clinical severity in TANGO2 deficiency: case series and literature review. Am J Med Genet A 2022; 188:473-487.
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