Benign hereditary chorea

Benign hereditary chorea (BHC)
[[File:|250px|alt=|]]
Synonyms	Benign familial chorea
Pronounce	N/A
Field	N/A
Symptoms
Complications
Onset
Duration
Types
Causes
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis
Frequency
Deaths

Benign hereditary chorea (BHC), also known as benign familial chorea, is a rare autosomal dominant neurogenetic syndrome. It typically presents in childhood with isolated chorea, with or without dull normal intelligence. Unlike other neurogenetic causes of chorea such as Huntington's disease, BHC is not progressive, and not associated with cognitive decline or psychiatric problems in the vast majority of cases.<ref name="Kleiner-Fisman-2003">,

 Benign hereditary chorea: clinical, genetic, and pathological findings., 
 Annals of Neurology, 
 
 Vol. 54(Issue: 2),
 pp. 244–7,
 DOI: 10.1002/ana.10637,
 PMID: 12891678,</ref>

BHC is caused by a single-nucleotide insertion mutation in TITF1, which encodes thyroid transcription factor 1 (TTF-1). This gene is also known as NK2 homeobox 1 (NKX2-1)<ref name="Kleiner-Fisman-2003" />

In some cases, additional developmental abnormalities of lung and thyroid tissue are found in BHC, leading to the suggested alternative name brain-lung-thyroid syndrome.<ref>,

 Benign Hereditary Chorea: An Update., 
 Tremor and Other Hyperkinetic Movements, 
 
 Vol. 5,
 pp. 314,
 DOI: 10.7916/D8RJ4HM5,
 PMID: 26196025,
 PMC: 4502401,</ref>

See also

• Chorea
• Huntington's disease

External links

   This article is a genetic disorder stub. You can help WikiMD by expanding it!

Error creating thumbnail:

   This article is a medical stub. You can help WikiMD by expanding it!

• Benign hereditary chorea
  Benign hereditary chorea