Getting a Huntington’s Disease Diagnosis in Australia

Getting a Huntington’s diagnosis: the years before anybody says the word

Huntington’s disease should be one of the easiest diagnoses in medicine. There is a definitive blood test. The gene is known. A positive result is unambiguous.

In practice, families routinely describe three to five years between the first thing going wrong and anybody saying the word, and in families with no known history it can be very much longer. The delay has almost nothing to do with the test and almost everything to do with what the first symptoms look like.

Because the first symptoms are usually not movement. They are mood, temper, and judgment.

A man in his early forties becomes short-tempered and unreliable at work. He loses the job. He drinks more. His marriage comes apart. He is treated for depression, then for an alcohol problem, then assessed for a personality disorder. Three years later somebody notices his hands.

That sequence is the single most common story in Huntington’s disease, and it causes damage that no later diagnosis undoes — the job, the marriage, the relationship with his children, sometimes a criminal record. A Monash-authored gap analysis for Huntington’s Victoria recorded a workplace complaint about one man’s supposed drinking, which his family described as deeply destructive to all of them.

This guide covers why the delay happens, the signs that should trigger the question, the diagnostic process, what gets ruled out, how to push, and what should happen in the first weeks afterwards.

Why it takes years

The earliest changes are psychiatric and cognitive, not motor. GeneReviews describes early signs as subtle eye movement and coordination changes, minor involuntary movements, difficulty with mental planning, and depressed or irritable mood. Only one of those four is a movement sign, and it is the one described as minor. Depression affects around 40 per cent of people with Huntington’s at more than twice general population rates, and it frequently arrives before anything else.

The base rate is doing the work. A 42-year-old with irritability, low mood and deteriorating work performance is overwhelmingly more likely to have depression, stress, a drinking problem or a failing marriage than Huntington’s disease. Probability-based reasoning is good medicine and here it generates a systematic delay.

Chorea looks like something else. Early chorea reads as fidgeting, restlessness, nervous energy, or a habit. Mild dysarthria and an unsteady gait read as intoxication — and once somebody has been labelled a drinker, everything subsequent is interpreted through that label.

Insight is often already reduced. Lack of awareness of one’s own deficits is common in HD, which means the person themselves may not report the problems, may minimise them in good faith, and may resist assessment.

Nobody asks about family history, or the family history is unknown or concealed. Huntington’s carried enormous stigma for generations and many families did not speak of it. Adults regularly discover at 40 that a grandparent’s “nervous condition” was this.

And HD is rare. A general practitioner may see one case in a career. The 2020 gap analysis recorded a specific request from the HD community for better HD knowledge among GPs and community services workers, and noted that the condition is often confused with motor neurone disease.

The signs that should prompt the question

If you are reading this because something is not being taken seriously, these are the features that justify asking directly about Huntington’s.

Any family history at all. A parent, grandparent, aunt or uncle with Huntington’s, or with an undiagnosed progressive neurological condition, or who died young of “a nervous disease,” or who was institutionalised, or who had an unexplained movement disorder. This single fact changes everything, and it is the question most often not asked. If it applies to you, say it unprompted and say it early.

Involuntary movements. Fidgeting that is not voluntary, flowing irregular movements of the fingers, face, trunk or legs, which worsen with stress and which the person cannot suppress. Ask specifically whether the person can stop them on request — chorea cannot be voluntarily suppressed.

Eye movement problems, which are early and present in up to 75 per cent of symptomatic people: difficulty initiating a saccade, slow eye movements, undershooting a target, difficulty holding fixation. A neurologist can elicit these in under a minute and they are among the earliest objective signs.

Personality change with a movement component, or in somebody with family history. Irritability, explosiveness, apathy, loss of social filter, rigidity of thinking, obsessive or perseverative behaviour.

Executive difficulty. Cannot plan, cannot sequence, cannot organise, cannot switch tasks, loses track mid-activity, cannot manage money or appointments any more.

Unexplained weight loss, which in HD can begin before motor symptoms and is a recognised early feature.

Early dysarthria — speech that is slurred or effortful without any other explanation.

Deteriorating work performance plus mood change plus any motor sign, in somebody in their thirties, forties or fifties.

A psychiatric presentation that does not behave like psychiatric illness — depression that does not respond to adequate treatment, a “personality disorder” appearing for the first time in middle age, a first psychotic episode in a 45-year-old with a movement disorder.

And in a child or adolescent: declining school performance with new rigidity, clumsiness, seizures or behaviour change, particularly where the father is affected or at risk. See juvenile Huntington’s disease.

The process

The GP. The job is to get a neurology referral, with the right information in it. A referral saying “irritability, query depression” goes in one queue; a referral saying “progressive irritability and executive decline over two years, with new choreiform movements and a paternal family history of an undiagnosed progressive neurological illness, query Huntington’s disease” goes in another. Ask your GP to write the family history and the motor signs into the referral explicitly.

The neurologist. The diagnosis of Huntington’s is made clinically, on the basis of characteristic motor signs in a person at genetic risk, and then confirmed genetically. The examination looks for chorea, the oculomotor abnormalities described above, dysarthria, impaired voluntary movement and fine motor control, gait abnormality, and hyperreflexia, which appears early in about 90 per cent of people.

The genetic test. A blood test counting the CAG repeats in the HTT gene. In somebody with symptoms this is a diagnostic test rather than a predictive one, which matters: it confirms the cause of an existing illness, so it does not go through the full predictive testing protocol. It is still usually arranged with genetic counselling involvement, because a positive result has immediate implications for the person’s children and siblings. Forty or more repeats confirms the diagnosis. The repeat ranges are set out in Huntington’s genetics and the 50 per cent.

MRI of the brain, which in established HD may show caudate atrophy but is frequently normal early and is used largely to exclude other causes.

Neuropsychological assessment. Important diagnostically and essential later for funding. Ask for it early.

Psychiatric assessment where psychiatric symptoms are prominent, which they usually are.

Blood tests to exclude mimics: thyroid function, copper studies for Wilson’s disease, a blood film for acanthocytes, autoimmune and infectious screens where indicated.

And referral to a specialist HD service. This is the step that changes the most and that most people are not offered. Australia has dedicated services at Westmead and John Hunter in NSW, Royal Brisbane and Women’s Hospital in Queensland, Flinders Medical Centre in SA, Royal Melbourne Hospital’s Neuropsychiatry Centre and Calvary Health Care Bethlehem in Victoria, and North Metropolitan Health Services in WA, with services through Older Persons Mental Health in Tasmania. The ACT and Northern Territory have no listed clinic. Ask for the referral and ask again; Huntington’s Australia on 1800 244 735 will tell you which service covers you.

What gets excluded

Several conditions produce chorea or a similar picture, and some are treatable, which is why the test is done rather than the diagnosis assumed.

Wilson’s disease, a disorder of copper metabolism causing movement and psychiatric symptoms in young adults. Treatable. This is the exclusion that matters most and it is why copper studies are done.

Neuroacanthocytosis, a group of conditions producing chorea with abnormally shaped red cells on a blood film.

Spinocerebellar ataxias, particularly SCA17 and SCA2, and dentatorubral-pallidoluysian atrophy (DRPLA), which can closely resemble HD. These are sometimes grouped as “HD-like” syndromes and are tested for when the HD test is negative in a convincing clinical picture.

Tardive dyskinesia from previous antipsychotic exposure — relevant because people with early HD are frequently prescribed antipsychotics for psychiatric symptoms before anybody suspects HD, which muddies the picture considerably.

Sydenham’s chorea and other autoimmune or post-infectious choreas.

Thyrotoxicosis. Treatable.

Frontotemporal dementia, where behaviour and executive change dominate. See frontotemporal dementia.

Drug-induced movement disorders, including from stimulants.

And where the HD test is negative in somebody with a convincing clinical picture, the diagnosis is not simply dismissed — the HD-like syndromes above are tested for, and a specialist movement disorder opinion is appropriate.

What to insist on, and how to say it

Vague escalation does not work. Naming the thing does.

“There is Huntington’s disease in my family” — or an undiagnosed progressive neurological condition, or a relative who died young with a movement disorder. Say it at the first appointment, not the fifth. Nothing changes a clinician’s thinking faster.

“Has Huntington’s disease been considered and excluded?” A direct question gets an explicit answer, and it gets written in the notes.

“Can I be referred to a neurologist, and can the referral say why?”

“Can I have a genetic test for Huntington’s disease?” Knowing the test exists and asking for it by name changes the conversation.

“Can I be referred to a specialist Huntington’s disease service?”

“Can I have a neuropsychological assessment?”

“Can you check copper studies and thyroid function?” The treatable exclusions.

“Can I see the reports?” Request copies of everything. You will need them for the NDIS, for other opinions, and because getting them later is harder.

And on the drinking question, if it has arisen: say clearly and in writing that the movement and speech changes are being investigated as neurological, and ask that the alcohol hypothesis be documented as a hypothesis rather than a conclusion. This matters because once an alcohol label is attached it is sticky, it follows people between services, and it is the single most common way people with early HD get written off.

Being told

Two things about the delivery of this diagnosis, because it is handled badly often enough to be worth naming.

The 2020 gap analysis recorded a participant’s description of how their relative’s news was delivered: “there was no leadup, she just ripped it open.”

Huntington’s is a diagnosis with a particular weight, because it is never only about the person receiving it. It identifies a 50 per cent risk to each of their children, and in many cases it tells an untested parent or sibling something about themselves that they had chosen not to find out. Delivering it well means allowing for all of that.

What good practice looks like: a dedicated appointment with time allowed; a support person present; the word actually said; an honest answer about prognosis if asked, as a range; a clear statement of what can be done, because a good deal can; written information; genetic counselling offered for the person and their relatives; a named contact; and follow-up within weeks.

And one clinical point that belongs here. The clinical literature records suicidal ideation as common in Huntington’s disease, with the highest risk clustering at diagnosis and at the points where independence is given up. The period immediately after this diagnosis is a recognised high-risk time. If you or someone in your family is in that period, the follow-up appointment matters, and so does telling somebody. Lifeline is on 13 11 14. Huntington’s Australia on 1800 244 735 can connect you with people who have had the same appointment.

The first month

1. Ring Huntington’s Australia on 1800 244 735. They coordinate support nationally and will tell you what exists where you live.
2. Ask for referral to a specialist HD service, and to genetic counselling — free, and for the whole family, not just the person diagnosed.
3. Lodge the NDIS access request, with a neuropsychological assessment and a functional report. See Huntington’s disease and the NDIS.
4. Get the diagnosis in writing, with the CAG repeat number, the date, and current function described across motor, cognitive and psychiatric domains.
5. Book a solicitor for an enduring power of attorney and an enduring guardianship, done while nobody could question capacity. In a condition with early executive and insight changes, this is more time-critical than it looks.
6. Find every insurance policy and superannuation fund and request the wording before resigning from any job. Note that Australian law changed on 8 October 2026 regarding genetic test results and life insurance; see predictive testing for Huntington’s.
7. Deal with driving honestly. You must notify the licensing authority of a condition likely to affect driving, and non-disclosure can void insurance cover.
8. Ask about mood treatment. Depression and anxiety in HD are treatable and this is frequently the highest-value intervention available.
9. Ask for a dietitian referral, because weight loss in HD begins early and matters. See eating, weight and swallowing.
10. Tell two people you trust. Not everybody. Two.

Driving, work and the licence

Three practical matters that arrive with the diagnosis and that get handled badly if left to drift.

Driving. You must notify the licensing authority in your state or territory of any condition likely to affect driving. This is a legal obligation rather than a suggestion, and non-disclosure can void your insurance cover entirely — so an undisclosed diagnosis turns an at-fault accident into a personal financial catastrophe on top of everything else.

Telling them does not mean the licence goes automatically. Fitness to drive is assessed against the Austroads Assessing Fitness to Drive standards as administered by your state authority, and the usual route is an occupational therapy driving assessment. Early Huntington’s with mild chorea and intact judgment may well be compatible with a conditional licence.

What makes driving unsafe in HD is frequently not the chorea. It is the slowed reaction time, the impaired visual scanning from the oculomotor problems, the reduced ability to divide attention, the impulsivity, and — the difficult one — the reduced insight, which means the person may be the last to know. This is the single most common serious conflict in HD families, and it is one of the strongest arguments for getting the assessment done early and externally rather than arguing about it at home. “The assessment says so” is a far better position than “I don’t think you should.”

Work. Do not resign before taking advice. Many income protection policies require the claim to arise while employed, and resigning first can extinguish a valid claim as well as affecting accrued entitlements and any total and permanent disablement benefit.

The Disability Discrimination Act obliges an employer to make reasonable adjustments. Reduced hours, a changed role, working from home, a quieter workstation, written rather than verbal instructions, or a longer handover. Workplace modifications and assistive technology can be paid for through JobAccess and the Employment Assistance Fund.

The employment conversation specifically. In Huntington’s this frequently comes too late, because the behavioural and executive changes have already produced performance problems before anybody has a diagnosis to explain them. People get performance-managed out of jobs for a condition nobody has named — which costs them the insurance claim, the leave handled properly, and sometimes the superannuation benefit. If a diagnosis has just arrived and there is a performance process underway, get union or legal advice immediately, because the sequence of events matters.