DYT29: Dystonia 29

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

DYT29: Dystonia 29. This is caused by mutations in the MECR gene on chromosome 1. Fully referenced neurology checklist.

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

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Ophthalmic features

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Associated movement disorders

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Differential diagnosis

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Magnetic resonance imaging (MRI) brain

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Optical coherence tomography (OCT)

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Treatment

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Synonyms

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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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