Disease modifying treatment available:
Time critical diagnosis and management:
Lateralising:
Huntington's disease is caused by a trinucleotide repeat expansion in the gene huntingtin (HTT).
| Gene | ||
|---|---|---|
| HTT | Search ClinVar | Search ClinGen |
Huntington's disease may cause the following:
| Laboratory Investigation | Result |
|---|
No disease modifying treatment is available. The diagnosis should be made with genetic counselling given the implications for the individual and their families. Pre-implantation genetic diagnosis is available and allows individuals affected by the disease to ensure their offspring do not carry pathological variants.