Background JHD is ultra-rare (5–10% of all HD) and therefore our knowledge about it is spotty with most information coming from clinical experience or case series. Social media has allowed communities of JHD families to communicate regularly. Through this mechanism, we identified 5 symptoms that were often mentioned by JHD caretakers, but were not considered part of the classic triad of symptoms (motor, cognitive, behaviour): 1) sleep disturbance; 2) pain; 3) itching; 4) tics; 5) psychosis. We sought to quantify and clarify these symptoms in subjects with JHD.
Aim To quantify and characterise 5 symptoms associated with JHD but outside of the classic features.
Methods A Qualtrics on-line survey was constructed and distributed through Facebook and Twitter accounts associated with HD and JHD communities. JHD was defined by an age at diagnosis of 21 or younger. For each of the 5 symptoms, the survey inquired whether or not that symptom was present in the JHD subject; if yes, additional information location, severity, frequency, and nature was obtained.
Results A total of 38 surveys were analysed. The % of respondents that answered ‘yes’ to the presence of each of the 5 symptoms were: Sleep disturbance (90%); tics (76%); Pain (68%); itching (57%) and psychosis (39%). Sleep disturbance was typically moderate to severe and nightly. Pain was localised mostly in the legs, also moderate to severe and daily. The phenomenon called ‘itching’ was not associated with any dermatologic changes and was also considered very problematic. The most common psychotic symptom was visual hallucinations.
Conclusion These symptoms are common but unrecognised in JHD. Many families expressed frustration at the lack of knowledge about these symptoms or how to treat them. Better understanding of these symptoms will require a study to determine potential neurobiology and should lead to development of more effective treatment plans.