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Genetic and Rare Diseases Information Center (GARD)

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Behr syndrome

Other Names for this Disease
  • Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
  • Optic atrophy, infantile hereditary, Behr complicated form of
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Behr syndrome is a disorder mainly characterized by early-onset optic atrophy, ataxia, and spasticity. Other signs and symptoms may be present and vary from person to person.  Although the exact cause is unknown, the syndrome is believed to be genetic and inherited in an autosomal recessive fashion, in most cases. Autosomal dominant inheritance has been reported in one family. Treatment depends on the specific signs and symptoms seen in the patient.[1][2][3]
Last updated: 7/15/2010


  1. Marzan KAB, Barron TF. MRI Abnormalities in Behr Syndrome. Pediatr Neurol. 1994;
  2. Schramm P, Scheihing M, Rasche D, Tronnier VM. Behr syndrome variant with tremor treated by VIM stimulation. Acta Neurochir. 2005;
  3. Copeliovitch L, Katz K, Arbel N, Harries N, Bar-On E, Soudry M. Musculoskeletal Deformities in Behr Syndrome. Journal of Pediatric Orthopaedics. 2001;
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Behr syndrome. Click on the link to view a sample search on this topic.