Paula and Bobby
Parents of Lillie
Chorea, Benign Hereditary; BHC
What is Chorea, Benign Hereditary; BHC?
Chorea, Benign Hereditary; BHC is a rare disease. It is also known as Bch Brain - lung - thyroid disease Hereditary Progressive Chorea Without Dementia.
Classically this is said to have a congenital onset, but as it might be difficult to diagnose it so early, the onset could be said to be slightly later. It is usually non-progressive and dementia is not a feature. There have, however, been unusual families with minimal progression and a little forgetfulness in later life. Clearly, the differential diagnosis is Huntington's disease, but the condition does not map to the Huntingtons locus (Yapijakis et al., 1995).
The condition has now been mapped to 14q (de Vries et al., 2000) but some authors still question whether this is a single entity (Schrag et al., 2000). In this latter study, the authors considered the diagnosis in 18 families and changed the diagnosis in 12 (ataxia-telangiectasia in one, Huntington's disease in another). The differentiation between chorea and jerky dystonia and myoclonus can be difficult. A further study of a large family by Fernandez et al., (2001), confirmed linkage to 14q. The family had originally been reported as having 'familial essential tremor' (Bird et al., 1976). A deletion of the TITF1 gene , a homeodomain-containing transcription factor essential for the organogenesis of the lung, thyroid and basal ganglia has now been reported (Breedveld et al., 2002). In another report by Breedveld et al., (2002) only 3 out of 7 Dutch families mapped to 14q. A mutation in TITF-1 was reported by Kleiner-Fisman et al., (2003) in a Canadian family and others by Asmus et al., (2005), do Carmo Costa et al., (2005) and Provenzano et al., (2008). Note the patient reported by Armstrong et al., (2011) with genetically proven chorea who subsequently developed myoclonus-dystonia. None of the 6 patients reported by Konishi et al., (2013) had hypothyroidism, intellectual disability or respiratory infections. Mutations in NKX2.1 are also implicated (Peall et al., 2014). A young female reported by Kumar and Dixon (2014) was intellectually behind and had subtle cortical dysplasia
Mutations in ADCY5 can also cause this condition (Mencacci et al., 2015).
* This information is courtesy of the L M D.
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What gene changes cause Chorea, Benign Hereditary; BHC?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 118700 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
NKX2-1 - 14q13.3
ADCY5 - 3q21.1
CACNA2D2 - 3p21.31
What are the main symptoms of Chorea, Benign Hereditary; BHC?
The typical symptoms of the syndrome are:
Chorea, Anxiety, Juvenile onset, Phenotypic variability, Gait disturbance, Motor delay, Dementia, Dysarthria, Autosomal dominant inheritance
How does someone get tested for Chorea, Benign Hereditary; BHC?
The initial testing for Chorea, Benign Hereditary; BHC can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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