DYT29: Dystonia 29

Evidence-based neurology checklist on dyt29: dystonia 29: Genetics This is caused by mutations in the MECR gene on chromosome 1 The gene is involved in mitochondrial fatty acid synthesis The transmission is autosomal dominant The onset is in the first decade Neurological features Ophthalmic…

Genetics

  • This is caused by mutations in the MECR gene on chromosome 1
  • The gene is involved in mitochondrial fatty acid synthesis
  • The transmission is autosomal dominant
  • The onset is in the first decade

Neurological features

Ophthalmic features

Associated movement disorders

Differential diagnosis

Magnetic resonance imaging (MRI) brain

Optical coherence tomography (OCT)

Treatment

Synonyms

References

  1. Heimer G, Kerätär JM, Riley LG, et al. MECR mutations cause childhood-onset dystonia and optic atrophy, a mitochondrial fatty acid synthesis disorder. Am J Hum Genet 2016; 99:1229-1244.
  2. Gorukmez O, Gorukmez O, Havalı C. Novel MECR mutation in childhood-onset dystonia, optic atrophy, and basal ganglia signal abnormalities. Neuropediatrics 2019; 50:336-337. 
  3. Liu Z, Shimura M, Zhang L, et al. Whole exome sequencing identifies a novel homozygous MECR mutation in a Chinese patient with childhood-onset dystonia and basal ganglia abnormalities, without optic atrophy. Mitochondrion 2021; 57:222-229.
  4. Nataraj J, MacLean JA, Davies J, et al. Application of deep brain stimulation for the treatment of childhood-onset dystonia in patients with MEPAN syndrome. Front Neurol 2024; 14:1307595.
  5. Gupta PR, Gospe SM , III. Ophthalmic manifestations of MEPAN syndrome. Ophthalmic Genet 2023; 44:469-474.
  6. And 1 more. Subscribe to see the full list

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