A Genetic Scourge Huntington’s Disease Poses Harsh Challenges For Patients And Families

While most Americans know about Alzheimer’s disease and other neurological conditions that afflict the elderly, other illnesses can be just as debilitating — and just as devastating for the victims and those who care for them.
Huntington’s disease (HD) is a neurological disorder that involves the death of cells in the central part of the brain known as the basal ganglia, causing loss of movement control, among other effects. Because this part of the brain controls so much physical, cognitive, and emotional activity, the disease ends up affecting a wide range of movements, moods, and thought processes.

It’s also, at the moment, incurable, and even lacks much in the way of effective treatment, making Huntington’s disease Alzheimer’s-like in the way it tears at families.
“The disease runs 20 years on average, ranging from 10 to 25,” said Dr. Carmel Armon, chief of Neurology at Baystate Medical Center. “The initial symptoms are mild, almost imperceptible — if you didn’t know something was wrong, you wouldn’t notice them — but at the most severe stage, the movements become dominant, pervasive, and resistant to medicine, interfering with patients’ ability to maintain themselves and their nutrition.”

In this month’s Elder Care Quarterly, The Healthcare News takes a look at this disease — as well as what patients and their families can do to ease its effects.

Taking Hold

More than a quarter of a million Americans either suffer from HD or are at risk of inheriting it from an affected parent — around the same number who suffer with hemophilia, cystic fibrosis, or muscular dystrophy, making Huntington’s anything but a rare occurrence, according to the Huntington’s Disease Society of America (HDSA).

Named for Dr. George Huntington, who first described this hereditary disorder in 1872, HD is now recognized as one of the more common genetic disorders. The condition typically begins in mid-life, between the ages of 30 and 45, though onset may occur as early as the age of 2. Children who develop the juvenile form of the disease rarely live to adulthood.

Huntington’s disease affects males and females equally and crosses all ethnic and racial boundaries. Each child of a person with HD has a 50{06cf2b9696b159f874511d23dbc893eb1ac83014175ed30550cfff22781411e5} chance of inheriting the fatal gene — and everyone who carries the gene will develop the disease.

Jim Pollard, an authority on HD who directs a treatment program in Lee, has written a manual for caregivers dealing with the disease, and he stresses that a clear understanding of the effects of the condition is primary to any treatment.

Specifically, Pollard notes, because the physical damage caused by HD is limited to the brain, a person with the condition might appear relatively able-bodied until the disease’s later stages. As a result, caregivers often mistakenly assume that changes in behavior are due to lack of motivation or laziness, not a disease.
“Every person experiences the beginning of HD in a unique way,” Pollard writes. “Some first notice small, subtle movements. Others find themselves becoming forgetful, and still others become depressed.”

The progression of the disease is unique in each patient as well, he added. Some might experience a rapid deterioration in cognitive function and less decline in control of movements, while others experience the opposite. But while no two people who suffer from Huntington’s disease present the same challenges to caregivers, in the most advanced stages, all symptoms tend to converge in a predictable way.

Movement changes, or chorea, are the first development, beginning with small changes in eye movement and involuntary movements of the fingers and face. Speech becomes slurred, and balance becomes impaired enough that falls are common. In addition, nearly all sufferers develop a swallowing disorder.

The cognitive changes that follow are less apparent at first than the movement changes, but can be more devastating to the patient; they range from difficulty in thinking and learning to a tendency to become inflexible and demanding of family and friends.

Those symptoms present some overlap with the emotional changes that also mark Huntington’s disease. Depression is common, especially for patients who have seen a parent struggle through the same disease progression. That depression, paired with a growing lack of impulse control, contributes to a higher-than-normal suicide rate among HD sufferers.

“They’re not just depressed because they have the disease,” Armon said. “Depression is part of the disease presentation.”

Slow Progress

In 1993, HD research saw a breakthrough when the gene that causes it was isolated and a direct genetic test developed that can accurately determine whether a person carries the gene. However, the test cannot predict when symptoms will begin.

More unfortunately, no cure or effective treatment is yet in sight — although certain treatments have been able to stem some of the symptoms. For instance, anti-depressant drugs — those in the family of Prozac, Zoloft, and Paxil — have had a positive impact on many sufferers, Armon said, adding that patients often find an effective drug through trial and error.

In addition, dopamine-blocking agents have been shown to ameliorate both involuntary movements and the psychotic effects of HD, although there are both benefits and risks to those treatments as well, which patients must work closely with doctors to determine.

Meanwhile, some patients have responded to botulinum toxin — the same substance used to manufacture wrinkle-reducing Botox. When injected into overactive muscles, the toxin works by producing a controlled amount of muscle relaxation or weakness.

Although it’s not useful in treating chorea of the whole body, botulinum toxin has shown benefits for people with isolated muscle spasms, including involuntary clenching of the jaw, according to Dr. Christopher O’Brien, medical director of the Movement Disorder Center at the HDSA’s Center of Excellence for Family Services at the Colorado Neurological Institute in Denver.

“Obviously, the medication is not ‘magic’ and certainly does not offer a cure for HD,” O’Brien said. “It does offer an alternative treatment for specific problems sometimes encountered during the course of HD.”

Armon recommends that anyone in the early stages of Huntington’s disease seek out a specialist; they can be found most metropolitan areas, such as Boston. “A specialist can at least make sense of what the current information is and what might be going on in clinical trials.”

And, of course, what the best course of treatment should be. Still, “some people in the mild stages of HD may feel that they’re coping well with the disease and don’t want to use any medications,” Armon said. “That’s a legitimate choice.”

For others, any treatment is welcome. With no cure in sight at the moment, it’s a small comfort — but a comfort indeed.