Overview & Genetic testing
Huntington Disease (HD) is a progressive neurodegenerative disease which develops in adulthood, usually between the ages of 30 and 50 years. The disease affects about one person in every ten thousand and individuals with HD develop difficulties with muscle coordination abnormal movements of the arms and legs (known as chorea), variable and diverse psychiatric disturbances as well as cognitive features/impairment. The condition is inherited as a dominant trait; therefore a parent who carries the fault in the gene will have a 50% chance with each pregnancyof having an affected child. However, if a child does not inherit the genetic fault, it cannot be passed on to his/her children.
The disease-causing mutation for HD was discovered in 1993, and in 1995 molecular genetic testing for HD was implemented at UCT. Patients and families with HD are seen at a special monthly Neurogenetics clinic at Groote Schuur Hospital. This clinic is run by medical specialists who provide clinical management and care. Additional services are offered by genetic counsellors, genetic nurses and a social worker as needed. A predictive testing program is also available for those adults who wish to be tested, in accordance with international guidelines. The program involves genetic counselling, psychological evaluation and support throughout the testing process.
The Huntington’s Association of South Africa (HASA) has a monthly support group meeting for HD patients and their families and caregivers (see details at http://www.huntingtons.org.za). This patient-driven organisation aims to support HD families, raise societal awareness and raise funds to establish much-needed care facilities for those affected. A dedicated social worker is also available to assist families manage their day-to-day requirements.
History of the research group
Research on HD in the Western Cape started at UCT in 1972 when Professor Peter Beighton was appointed as head of the Department of Human Genetics. Dr Michael Hayden was the first PhD graduate in 1979 with a thesis entitled “Huntington’s Chorea in South Africa”.
A manuscript entitled “A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations” Scholefield& Greenberg was published in 2007.
In 2015, Nuruneesa Lalkhen started a PhD project looking at “The experiences of the support partner during the predictive testing process for Huntington Disease”
Mandy Novis, a social worker, joined the team in April of 2015. Mandy pilots a new community care therapeutic program "Digital Story Telling" with the local HD Support group which is part of the Huntington's Association of South Africa (HASA) http://www.huntingtons.org.za/. In July, she supervised 2 Short Study Module (SSM) students on a project entitled: “Autobiography project – life story of patients and families affected by Huntington Disease.”
- Huntington Disease Fact Sheet
- Download the booklet of general information on Huntington disease: HD Info English or HD Info Afrikaans
- Download the booklet about caregiver management for Huntington disease: English or Afrikaans
- Predictive testing protocol for Huntington disease: HD English or HD Afrikaans
- Download the consent form for the predictive test for Huntington Disease