“”Currently, there is no cure for HD or treatment that is able to slow or stop the progression. However, there are treatments available to help manage some of the symptoms.”
UCSF Memory and Aging Center / Well Institute of Neuroscience
“”Currently, there is no cure for HD or treatment that is able to slow or stop the progression. However, there are treatments available to help manage some of the symptoms.”
UCSF Memory and Aging Center / Well Institute of Neuroscience
Huntington’s disease is caused by an inherited defect in a single gene. Huntington’s disease is an autosomal dominant disorder, which means that a person needs only one copy of the defective gene to develop the disorder.
With the exception of genes on the sex chromosomes, a person inherits two copies of every gene — one copy from each parent. A parent with a defective gene could pass along the defective copy of the gene or the healthy copy. Each child in the family, therefore, has a 50 percent chance of inheriting the gene that causes the genetic disorder.
After the start of Huntington’s disease, a person’s functional abilities gradually worsen over time. The rate of disease progression and duration varies. The time from disease emergence to death is often about 10 to 30 years. Juvenile Huntington’s disease usually results in death within 10 years after symptoms develop.
The clinical depression associated with Huntington’s disease may increase the risk of suicide. Some research suggests that the greater risk of suicide occurs before a diagnosis is made and in the middle stages of the disease when a person has begun to lose independence.
Eventually, a person with Huntington’s disease requires help with all activities of daily living and care. Late in the disease, he or she will likely be confined to a bed and unable to speak. However, he or she is generally able to understand language and has an awareness of family and friends.
Common causes of death include:
People with a known family history of Huntington’s disease are understandably concerned about whether they may pass the Huntington gene on to their children. These people may consider genetic testing and family planning options.
If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate the parent will develop the disease. Also, couples will need to make additional choices about whether to have children or to consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.
Another option for couples is in vitro fertilization and preimplantation genetic diagnosis. In this process, eggs are removed from the ovaries and fertilized with the father’s sperm in a laboratory. The embryos are tested for presence of the Huntington gene, and only those testing negative for the Huntington gene are implanted in the mother’s uterus.
“Huntington’s disease is a hereditary, degenerative brain disease that leads to uncontrolled movements, intellectual/cognitive decline, and emotional problems. Someone with a parent who has Huntington’s disease has a 50 percent chance of inheriting the gene for the disease.”
New York Presbyterian Hospital / Neurology and NeuroSurgery
Huntington’s disease is an inherited disease that causes the progressive breakdown (degeneration) of nerve cells in the brain. Huntington’s disease has a broad impact on a person’s functional abilities and usually results in movement, thinking (cognitive) and psychiatric disorders.
Most people with Huntington’s disease develop signs and symptoms in their 30s or 40s. But the disease may emerge earlier or later in life.
When the disease develops before age 20, the condition is called juvenile Huntington’s disease. An earlier emergence of the disease often results in a somewhat different set of symptoms and faster disease progression.
Medications are available to help manage the symptoms of Huntington’s disease, but treatments can’t prevent the physical, mental and behavioral decline associated with the condition.
Huntington’s disease usually causes movement, cognitive and psychiatric disorders with a wide spectrum of signs and symptoms. Which symptoms appear first varies greatly among affected people. During the course of the disease, some disorders appear to be more dominant or have a greater effect on functional ability.
The movement disorders associated with Huntington’s disease can include both involuntary movement problems and impairments in voluntary movements, such as:
Impairments in voluntary movements — rather than the involuntary movements — may have a greater impact on a person’s ability to work, perform daily activities, communicate and remain independent.
Cognitive impairments often associated with Huntington’s disease include:
The most common psychiatric disorder associated with Huntington’s disease is depression. This isn’t simply a reaction to receiving a diagnosis of Huntington’s disease. Instead, depression appears to occur because of injury to the brain and subsequent changes in brain function. Signs and symptoms may include:
Other common psychiatric disorders include:
In addition to the above symptoms, weight loss is common in people with Huntington’s disease, especially as the disease progresses.
The start and progression of Huntington’s disease in younger people may be slightly different from that in adults. Problems that often present themselves early in the course of the disease include:
“Stages of Sleep and Sleep Cycles. Usually sleepers pass through four stages: 1, 2, 3, and REM (rapid eye movement) sleep. These stages progress cyclically from 1 through REM then begin again with stage 1. A complete sleep cycle takes an average of 90 to 110 minutes, with each stage lasting between 5 to 15 minutes.”
TUCK Advancing Better Sleep
When awake, most people exhibit the brain wave patterns that can be classified into two types of waves, beta and alpha. Beta waves are those associated with day to day wakefulness. These waves are the highest in frequency and lowest in amplitude, and also more desynchronous than other waves. That is, the waves are not very consistent in their pattern. This desynchrony makes sense given that day to day mental activity consists of many cognitive, sensory, and motor activities and experiences, and, thus, when awake, we are mentally desynchronous as well. During periods of relaxation, while still awake, our brain waves become slower, increase in amplitude and become more synchronous. These types of waves are called alpha waves. For example, such brain waves are often associated with states of relaxation and peacefulness during meditation and biofeedback.
The first stage of sleep is characterized by theta waves, which are even slower in frequency and greater in amplitude than alpha waves. The difference between relaxation and stage 1 sleep is gradual and subtle. As the sleeper moves to stage 2 sleep theta wave activity continues, interspersed with two unusual wave phenomena. These phenomena, which occur periodically every minute or so, and are defining characteristics of stage 2 sleep, are termed sleep spindles and K complexes. The former is a sudden increase in wave frequency, and the latter is a sudden increase in wave amplitude. Stages 1 and 2 are relatively “light” stages of sleep. In fact, if someone is awoken during one of these stages, he or she will often report no being asleep at all.
Stage 1 is light sleep where you drift in and out of sleep and can be awakened easily. In this stage, the eyes move slowly and muscle activity slows. During this stage, many people experience sudden muscle contractions preceded by a sensation of falling. The first stage of sleep is characterized by theta waves, which are even slower in frequency and greater in amplitude than alpha waves. The difference between relaxation and stage 1 sleep is gradual and subtle. As the sleeper moves to stage 2 sleep theta wave activity continues, interspersed with two unusual wave phenomena. These phenomena, which occur periodically every minute or so, and are defining characteristics of stage 2 sleep, are termed sleep spindles and K complexes. The former is a sudden increase in wave frequency, and the latter is a sudden increase in wave amplitude. Stages 1 and 2 are relatively “light” stages of sleep. In fact, if someone is awoken during one of these stages, he or she will often report not being asleep at all.
In stage 2, eye movement stops and brain waves become slower with only an occasional burst of rapid brain waves.
When a person enters stage 3, extremely slow brain waves called delta waves are interspersed with smaller, faster waves.
In stage 4, the brain produces delta waves almost exclusively.
Stages 3 and 4 are referred to as deep sleep or delta sleep, and it is very difficult to wake someone from them. In deep sleep, there is no eye movement or muscle activity. This is when some children experience bedwetting, sleepwalking or night terrors. In 2008 the sleep profession in the US eliminated the use of stage 4. Stages 3 and 4 are now considered stage 3 by them.
Slow wave sleep comes mostly in the first half of the night, REM in the second half. Waking may occur after REM. If the waking period is long enough, the person may remember it the next morning. Short awakenings may disappear with amnesia.
In the REM period, breathing becomes more rapid, irregular and shallow, eyes jerk rapidly and limb muscles are temporarily paralyzed. Brain waves during this stage increase to levels experienced when a person is awake. Also, heart rate increases, blood pressure rises, males develop erections and the body loses some of the ability to regulate its temperature. This is the time when most dreams occur, and, if awoken during REM sleep, a person can remember the dreams. Most people experience three to five intervals of REM sleep each night.
Infants spend almost 50% of their time in REM sleep. Adults spend nearly half of sleep time in stage 2, about 20% in REM and the other 30% is divided between the other three stages. Older adults spend progressively less time in REM sleep.
“Early to bed, early to rise, keeps a you healthy, wealthy and wise. Write yourself a prescription for 8 hours of sleep a night.”
The Better Sleep Council (https://bettersleep.org/better-sleep/)
When you go to bed do you wake up to the slightest noise (car going by the house, a dog barking outside, the heat going on or the cat fight outside)? I know I do and have for years; unfortunately the slightest noise wakes me up, even a pin dropping to the floor and probably live on 5 to 6 hours a day of sleep. Some people even feel when they are scrambling to meet the countless demands of their day, cutting back on sleep might seem like the only answer. Who can afford to spend so much time sleeping, anyway? The truth is you can’t afford not to. Even minimal sleep loss takes a toll on your mood, energy, and ability to handle stress. By understanding your nightly sleep needs and what you can do to bounce back from chronic sleep loss, you can finally get on a healthy sleep schedule or pattern.
Many of us try to sleep as little as possible. There are so many things that seem more interesting or important than getting a few more hours of sleep, but just as exercise and nutrition are essential for optimal health and happiness, so is sleep. The quality of your sleep directly affects the quality of your waking life, including your mental sharpness, productivity, emotional balance, creativity, physical vitality, and even your weight. No other activity delivers so many benefits with so little effort!
According to the National Institutes of Health, the average adult sleeps less than seven hours per night. In today’s fast-paced society, six or seven hours of sleep may sound pretty good. In reality, though, it’s a recipe for chronic sleep deprivation.
Remember sleep deprivation can affect you like a drunk. This could be many symptoms like fatigue, lethargy, lack of motivation, moodiness and irritability, reduced creativity and problem-solving skills, inability to cope with stress, reduced immunity; frequent colds and infections, concentration and memory problems, weight gain, impaired motor skills, increased risk of accidents, difficulty making decisions to even increased risk of diabetes, heart disease, and other health problems.
There is a big difference between the amount of sleep you can just get by on to get through your day compared to the amount you need to function optimally. Just because you’re able to operate on seven hours of sleep doesn’t mean you wouldn’t feel a lot better and get more done if you spent an extra hour or two in bed.
While sleep requirements vary slightly from person to person, most healthy adults need between seven and a half to nine hours of sleep per night to function at their best. Children and teens need even more (see Average Sleep Needs table below). And despite the notion that our sleep needs decrease with age, older people still need at least seven and a half to eight hours of sleep. Since older adults often have trouble sleeping this long at night, daytime naps can help fill in the gap.
The best way to figure out if you’re meeting your sleep needs is to evaluate how you feel as you go about your day. If you’re logging enough hours, you’ll feel energetic and alert all day long, from the moment you wake up until your regular bedtime.
Consistency doing the following measures is the key to prevent sleep deprivation: Settle short-term sleep debt with an extra hour or two per night, Keep a sleep diary, Take a sleep vacation to pay off a long-term sleep debt, finally you must make sleep a priority.
Sleep isn’t exactly a time when your body and brain shut off. While you rest, your brain stays busy, overseeing a wide variety of biological maintenance that keeps your body running in top condition, preparing you for the day ahead. Without enough hours of restorative sleep, you won’t be able to work, learn, create, and communicate at a level even close to your true potential. Regularly skimp on “service” and you’re headed for a major mental and physical breakdown.
The good news is that you don’t have to choose between health and productivity. As you start getting the sleep you need, your energy and efficiency will go up. In fact, you’re likely to find that you actually get more done during the day than when you were skimping on shuteye.
It’s not just the number of hours in bed that’s important—it’s the quality of those hours of sleep. If you’re giving yourself plenty of time for sleep, but you’re still having trouble waking up in the morning or staying alert all day, you may not be spending enough time in the different stages of sleep.
Each stage of sleep in the sleep cycle offers benefits to the sleeper. However, deep sleep (Stage N3) and REM sleep are particularly important. Learn more about the stages of sleep tomorrow and maybe it will help you strive for better health!
“ALS was first found in 1869 by French neurologist Jean-Martin Charcot, but it wasn’t until 1939 that Lou Gehrig brought national and international attention to the disease. Ending the career of one of the most beloved baseball players of all time, the disease is still most closely associated with his name. Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord.”
ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and the spinal cord. A-myo-trophic comes from the Greek language. “A” means no. “Myo” refers to muscle, and “Trophic” means nourishment – “No muscle nourishment.” When a muscle has no nourishment, it “atrophies” or wastes away. “Lateral” identifies the areas in a person’s spinal cord where portions of the nerve cells that signal and control the muscles are located. As this area degenerates it leads to scarring or hardening (“sclerosis”) in the region.
Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise. When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. With voluntary muscle action progressively affected, people may lose the ability to speak, eat, move and breathe. The motor nerves that are affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for a smart phone or step off a curb. These actions are controlled by the muscles in the arms and legs. Motor neurons are nerve cells located in the brain, brain stem, and spinal cord that serve as controlling units and vital communication links between the nervous system and the voluntary muscles of the body. Messages from motor neurons in the brain called upper motor neurons are transmitted to motor neurons in the spinal cord which are lower motor neurons and from them to particular muscles. The problem with ACL, both the upper motor niurons and the ower motor niurons degenerate or die which causes stoppage of sending messages to muscles. Unable to function, the muscles gradually weaken, waste away (atrophy), and have very fine twitches (called fasciculations). Eventually, the ability of the brain to start voluntary movement with messages is unable to work anymore.
The onset of ALS may be so subtle that the symptoms are overlooked. The earliest symptoms may include fasciculations, cramps, tight and stiff muscles (spasticity), muscle weakness affecting an arm or a leg, slurred and nasal speech, or difficulty chewing or swallowing. These general complaints then develop into more obvious weakness or atrophy that may cause a physician to suspect ALS. Regardless of the part of the body first affected by the disease, muscle weakness and atrophy spread to other parts of the body as the disease progresses.
The parts of the body showing early symptoms of ALS depend on which muscles in the body are affected. Many individuals first see the effects of the disease in a hand or arm as they experience difficulty with simple tasks requiring manual dexterity such as buttoning a shirt, writing, or turning a key in a lock. In other cases, symptoms initially affect one of the legs, and people experience awkwardness when walking or running or they notice that they are tripping or stumbling more often.
There are two different types of ALS, sporadic and familial. Sporadic which is the most common form of the disease in the U.S., is 90 – 95 percent of all cases. It may affect anyone, anywhere. Familial ALS (FALS) accounts for 5 to 10 percent of all cases in the U.S. Familial ALS means the disease is inherited. In those families, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease. French neurologist Jean-Martin Charcot discovered the disease in 1869.
The cause of ALS is not known, and scientists do not yet know why ALS strikes some people and not others. An important step toward answering this question was made in 1993 when scientists supported by the National Institute of Neurological Disorders and Stroke (NINDS) discovered that mutations in the gene that produces the SOD1 enzyme were associated with some cases of familial ALS.
Recent years have brought a wealth of new scientific understanding regarding the physiology of this disease. There is currently one FDA approved drug, riluzole, that modestly slows the progression of ALS in some people. Although there is not yet a cure or treatment that halts or reverses ALS, scientists have made significant progress in learning more about this disease. In addition, people with ALS may experience a better quality of life in living with the disease by participating in support groups and attending an ALS Association Certified Treatment Center of Excellence or a Recognized Treatment Center. Such Centers provide a national standard of best-practice multidisciplinary care to help manage the symptoms of the disease and assist people living with ALS to maintain as much independence as possible for as long as possible. According to the American Academy of Neurology’s Practice Paramater Update, studies have shown that participation in a multidisciplinary ALS clinic may prolong survival and improve quality of life.
To find a Center near you, visit http://www.alsa.org/community/certified-centers/.
ALS usually strikes people between the ages of 40 and 70, and approximately 20,000 Americans can have the disease at any given time (although this number fluctuates). For unknown reasons, military veterans are approximately twice as likely to be diagnosed with the disease than the general public. Notable individuals who have been diagnosed with ALS include baseball great Lou Gehrig, Hall of Fame pitcher Jim “Catfish” Hunter, Toto bassist Mike Porcaro, Senator Jacob Javits, actor David Niven, “Sesame Street” creator Jon Stone, boxing champion Ezzard Charles, NBA Hall of Fame basketball player George Yardley, golf caddie Bruce Edwards, , musician Lead Belly (Huddie Ledbetter), photographer Eddie Adams, entertainer Dennis Day, jazz musician Charles Mingus, former vice president of the United States Henry A. Wallace, U.S. Army General Maxwell Taylor, and NFL football players Steve Gleason, O.J. Brigance and Tim Shaw.
Who gets ALS?
More than 12,000 people in the U.S. have a definite diagnosis of ALS, for a prevalence of 3.9 cases per 100,000 persons in the U.S. general population, according to a report on data from the National ALS Registry. ALS is one of the most common neuromuscular diseases worldwide, and people of all races and ethnic backgrounds are affected. ALS is more common among white males, non-Hispanics, and persons aged 60–69 years, but younger and older people also can develop the disease. Men are affected more often than women.
In 90 to 95 percent of all ALS cases, the disease occurs apparently at random with no clearly associated risk factors. Individuals with this sporadic form of the disease do not have a family history of ALS, and their family members are not considered to be at increased risk for developing it.
About 5 to 10 percent of all ALS cases are inherited. The familial form of ALS usually results from a pattern of inheritance that requires only one parent to carry the gene responsible for the disease. Mutations in more than a dozen genes have been found to cause familial ALS.
About one-third of all familial cases (and a small percentage of sporadic cases) result from a defect in a gene known as “chromosome 9 open reading frame 72,” or C9orf72. The function of this gene is still unknown. Another 20 percent of familial cases result from mutations in the gene that encodes the enzyme copper-zinc superoxide dismutase 1 (SOD1).
No cure has yet been found for ALS. However, the Food and Drug Administration (FDA) approved the first drug treatment for the disease—riluzole (Rilutek)—in 1995. Riluzole is believed to reduce damage to motor neurons by decreasing the release of glutamate. Clinical trials with ALS patients showed that riluzole prolongs survival by several months, mainly in those with difficulty swallowing. The drug also extends the time before an individual needs ventilation support. Riluzole does not reverse the damage already done to motor neurons, and persons taking the drug must be monitored for liver damage and other possible side effects. However, this first disease-specific therapy offers hope that the progression of ALS may one day be slowed by new medications or combinations of drugs.