Rett syndrome: management

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

Rett syndrome: management. Cerebellar hypoplasia, Progressive cerebellar atrophy. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI): features

  • Cerebellar hypoplasia
  • Progressive cerebellar atrophy

Electrocardiogram (ECG)

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Treatment

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References

  1. Zanni G, Bertini ES. X-linked disorders with cerebellar dysgenesis. Orphanet J Rare Dis 2011; 6:24.
  2. Weaving L, Ellaway C, Gecz J, Christodoulou J. Rett syndrome: clinical review and genetic update. J Med Genet 2005; 42:1-7.
  3. Marco EJ, Skuse DH. Autism-lessons from the X chromosome. SCAN 2006; 1:183–193.
  4. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev 2002; 8:61-65.
  5. Glaze DG, Neul JL, Kaufmann WE, et al; Rett 002 Study Group. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology 2019; 92:e1912-e1925.
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