Benign hereditary chorea

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Classification according to ICD-10
G25.5 Other chorea
ICD-10 online (WHO version 2019)

The Benign hereditary chorea is a very rare congenital disease with a movement disorder ( chorea ) in childhood without any significant deterioration in the "benign" ( benign ) course and clinical without further abnormalities.

Synonyms are: BHC; Chorea, familial benign

The first description comes from 1966 by the US doctors AF Haerer and colleagues at the annual meeting of the American Academy of Neurology in Philadelphia, PA, published in June 1967 A report by Jonathan H. Pincus and Abe Chutorian appeared almost at the same time.

distribution

The incidence is unknown, heredity takes place in an autosomal dominant , possibly autosomal - recessive .

root cause

Of the disease are - at least partly - mutations in NKX2-1 - gene on chromosome 14 locus q13.3 based, which for the thyroidal 1 transcription factor encoding.

Mutations in this gene are also held responsible for the brain-lung-thyroid syndrome , synonym: choreoathetosis-hypothyroidism-neonatal dyspnea syndrome and non- medullary thyroid cancer (NMTC).

Clinical manifestations

Clinical criteria are:

In addition to developmental retardation , dysarthria , myoclonus , attention-deficit / hyperactivity disorder , learning disabilities or hyperreflexia come.

literature

  • K. Müller, V. Hömberg, HG Lenard: Benign hereditary chorea: Clinical-neurophysiological investigations. In: HM Weinmann (Ed.) Current Neuropädiatrie , 1988. Print ISBN 978-3-642-74500-3 , Online ISBN 978-3-642-74499-0

Individual evidence

  1. ↑ a b c Chorea, benign hereditary. In: Orphanet (Rare Disease Database).
  2. ↑ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0, keyword: chorea
  3. ↑ AF Haerer, RD Currier, JF Jackson: Hereditary chorea nonprogressive of early onset. In: The New England Journal of Medicine . Volume 276, Number 22, June 1967, pp. 1220-1224, doi: 10.1056 / NEJM196706012762202 , PMID 4225827 .
  4. ^ JH Pincus, A. Chutorian: Familial benign chorea with intention tremor: a clinical entity. In: The Journal of pediatrics. Volume 70, Number 5, May 1967, pp. 724-729, doi: 10.1016 / s0022-3476 (67) 80322-6 , PMID 4225654 .
  5. ^ Chorea, Benign Familial.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ Chorea, hereditary benign.  In: Online Mendelian Inheritance in Man . (English)
  7. ↑ A. Carré, G. Szinnai, M. Castanet, p-Sura Trueba, E. Tron, I. Broutin-l'hermite, P. Barat, C. Goizet, D. Lacombe, ML Moutard, C. Raybaud, C. Raynaud-Ravni, S. Romana, H. Ythier, J. Léger, M. Polak: Five new TTF1 / NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. In: Human Molecular Genetics . Volume 18, Number 12, June 2009, pp. 2266-2276, doi: 10.1093 / hmg / ddp162 , PMID 19336474 .
  8. ↑ Brain-lung-thyroid syndrome. In: Orphanet (Rare Disease Database).
  9. ^ NK2 Homeobox 1.  In: Online Mendelian Inheritance in Man . (English)
  10. ↑ KJ Peall, MA Kurian: Benign Hereditary chorea: An Update. In: Tremor and other hyperkinetic movements. Volume 5, 2015, p. 314, doi: 10.7916 / D8RJ4HM5 , PMID 26196025 , PMC 4502401 (free full text) (review).
  11. ^ NJ Patel and J. Jankovic: NKX2-1-Related Disorders. In: MP Adam, HH Ardinger, RA Pagon et al. (Ed.) Gene Reviews

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