However, not everyone understands what ALS actually is, how it progresses, or why the Ice Bucket Challenge relates to the disease. These nerve cells are responsible for controlling voluntary muscle movement — including things like walking, talking, chewing, and breathing.
The progression of ALS differs between each patient, and not all patients experience the same symptoms or speed of progression, but it is generally divided into three stages: early, middle, and late. The first and most common ALS symptoms are muscle weakness and atrophy. Other symptoms at this stage typically include things like cramping, as well as muscle twitching known as fasciculations , stiffness and tightness known as spasticity. These symptoms usually affect one part of the body, to begin with, depending on which neurons are affected first.
In most cases, this is the neurons controlling the arms, hands, or legs — a condition known as limb onset ALS. Even in the early stage, ALS symptoms make it hard for people to perform everyday tasks such as cooking, dressing and getting around due to the loss of manual dexterity in the hands and awkwardness of the legs and feet. As ALS symptoms progress to the middle stage, muscle weakness and atrophy get more pronounced and start spreading to other parts of the body.
Some muscles will lose strength, while others will become completely paralyzed. At this point, many ALS patients have profound difficulty with or are no longer able to walk or use their hands and arms. Some muscles near the joints may become permanently contracted, which prevents the person from straightening out the affected limb.
People with middle-stage ALS start to lose the ability to swallow food and their own saliva dysphagia , and they may lose the ability to cough and breathe on their own, which increases the risk of choking. Muscle weakness in the throat can also make it difficult to speak and breathe dyspnea , and due to a reaction called the pseudobulbar affect , some ALS patients experience periods of uncontrollable laughter or crying. As the patient progresses to the late stages of ALS, most of their voluntary muscles will become paralyzed.
As ALS progresses, speech therapists can help people maintain the ability to communicate. Devices such as computer-based speech synthesizers use eye-tracking technology and can help people develop ways for responding to yes-or-no questions with their eyes or by other nonverbal means. Some people with ALS may choose to use voice banking while they are still able to speak as a process of storing their own voice for future use in computer-based speech synthesizers.
A brain-computer interface BCI is a system that allows individuals with ALS to communicate or control equipment such as a wheelchair using only brain activity. Nutritionists can teach individuals and caregivers how to plan and prepare small meals throughout the day that provide enough calories, fiber, and fluid and how to avoid foods that are difficult to swallow.
People may begin using suction devices to remove excess fluids or saliva and prevent choking. When individuals can no longer eat, doctors may advise inserting a feeding tube, which reduces the risk of choking and pneumonia that can result from inhaling liquids into the lungs.
As the muscles responsible for breathing start to weaken, people may experience shortness of breath during physical activity and difficulty breathing at night or when lying down. Initially, NIV may only be necessary at night but may eventually be used full time. Because the muscles that control breathing become weak, individuals with ALS may also have trouble generating a strong cough. There are several techniques to help people increase forceful coughing, including mechanical cough assistive devices.
As the disease progresses, individuals may need mechanical ventilation respirators in which a machine inflates and deflates the lungs. Doctors may place a breathing tube through the mouth or may surgically create a hole at the front of the neck and insert a tube leading to the windpipe tracheostomy.
Although ventilation support can ease breathing problems and prolong survival, it does not affect the progression of ALS. Cellular defects. Ongoing studies seek to understand the mechanisms that selectively trigger motor neurons to degenerate in ALS, which may lead to effective approaches to halt this process. Research using cellular culture systems and animal models suggests that motor neuron death is caused by a variety of cellular defects, including those involved in protein recycling and gene regulation, as well as structural impairments of motor neurons.
Increasing evidence also suggests that glial support cells and inflammation cells of the nervous system may play an important role in ALS. Stem cells. Scientists are turning skin cells of people with ALS into stem cells that are capable of becoming any cell type, including motor neurons and other cells which may be involved in the disease. NINDS-funded scientists are using stem cells to grow human spinal cord sections on tissue chips to help better understand the function of neurons involved in ALS.
Genetics and epigenetics. Other studies are working to identify additional genes that may cause or put a person at risk for either familial or sporadic ALS.
A large-scale collaborative research effort supported by NINDS , other NIH institutes, and several public and private organizations is analyzing genetic data from thousands of individuals with ALS to discover new genes involved in the disease.
By using novel gene editing tools, researchers are now able to rapidly identify new genes in the human genome involved in ALS and other neurodegenerative diseases. Additionally, researchers are looking at the potential role of epigenetics in ALS development. Epigenetic changes can switch genes on and off, which can greatly impact both health and disease. Although this research is exploratory, scientists hope that understanding epigenetics can offer new information about how ALS develops.
NINDS supports research on the development of biomarkers—biological measures that help identify the presence or rate of progression of a disease or the effectiveness of a therapeutic intervention.
Biomarkers can be molecules derived from a bodily fluid blood or cerebrospinal fluid , an image of the brain or spinal cord, or a measure of the ability of a nerve or muscle to process electrical signals. New treatment options. This work involves tests of drug-like compounds, gene therapy approaches, antibodies, and cell-based therapies in a range of disease models. Additionally, a number of exploratory treatments are being tested in people with ALS. The Registry includes data from national databases as well as de-identified information provided by individuals with ALS.
All information is kept confidential. People with ALS can add their information to the Registry by visiting www. Clinical trials Many neurological disorders do not have effective treatment options. Clinical trials offer hope for many people and an opportunity to help researchers find better ways to safely detect, treat, or prevent disease. For more information abuot finding clinical trials on ALS, visit www.
Physical effects Mobility is extremely limited, and help is needed in caring for most personal needs. Poor respiration may cause fatigue, fuzzy thinking, headaches, and susceptibility to pneumonia. Respiratory insufficiency is a leading cause of death in ALS.
Speech, or eating and drinking by mouth, may not be possible. End stage The vast majority of deaths in ALS are the result of respiratory failure, a process that progresses slowly over months. Medications can relieve discomfort, anxiety, and fear caused by respiratory insufficiency.
Hospice care in a facility or in the home focuses on providing comfort and maintaining quality of life by supporting the physical, emotional, and spiritual needs of the individual with ALS and their family members.
Families should contact hospice early on to see what in-home services are available even before the most advanced stage. At MDA clinics, physicians work closely with palliative care teams to coordinate treatment with in-home hospice care providers, assisted living facilities, or inpatient hospice settings. Such cooperation helps ensure the person with ALS has the most peaceful and painless experience possible. Looking for more information, support or ways to get involved?
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