Explore NeurologyAmyotrophic Lateral Sclerosis
What Is ALS?
Amyotrophic lateral sclerosis (ALS) is a neurological disease that belongs to a group of disorders known as motor neuron diseases. ALS is a progressive disease, and its progression is different for everyone.
Motor neurons extend from the brain to the spinal cord and from the spinal cord to muscles throughout the body. When motor neurons degenerate, the brain’s ability to initiate and control muscle movement is lost. The disease worsens over time, and people lose the ability to speak, eat, move, and breathe.
ALS is often called Lou Gehrig’s disease after the baseball player who was diagnosed with it. The disease’s exact cause is unknown, and, in most cases, there is no cure.
Symptoms
Symptoms of ALS will vary from person to person and depend on which nerve cells are affected. Symptoms might include:
- Trouble walking or doing normal daily activities
- Tripping, falling, or dropping things
- Weakness or tiredness in the arms, legs, feet, or ankles
- Hand weakness or clumsiness
- Slurred speech or trouble swallowing
- Muscle cramps and twitches in arms, legs, and tongue
- Difficulty holding the head up or keeping good posture
- Untimely crying, laughing, or yawning
- Behavior or thinking changes
ALS will affect control of the muscles needed to move, speak, eat, and breathe. It usually doesn’t affect the bladder or the ability to see, taste, smell, touch, or hear.
Risk Factors
Established risk factors for ALS include:
- Genetics. For about 10% of people with ALS, a risk gene is identified that was passed down from a family member. This is called hereditary ALS. In most people with hereditary ALS, their children have a 50% chance of inheriting the gene.
- Age. Risk increases with age up to age 75. ALS is most common between the ages of 60 and the mid-80s.
- Sex. Before the age of 65, slightly more men than women develop ALS. This difference disappears after age 70.
Certain environmental factors have also been associated with an increased risk of ALS, including smoking, environmental toxin exposure, and military service.
Complications
As the disease progresses, ALS causes complications in the following areas.
Breathing
Over time, ALS weakens the muscles used to breathe. To help breathing at night, some people might need a mask ventilator, similar to what someone with sleep apnea might wear. Other people with advanced ALS choose to have a tracheostomy. This is a surgically created hole at the front of the neck leading to the windpipe.
Dementia
Some people with ALS have problems with language and decision-making. Some are eventually diagnosed with a form of dementia called frontotemporal dementia.
Eating
People with ALS can develop weakness of the muscles involved with swallowing, which can lead to malnutrition and dehydration. They are also at higher risk of getting food, liquids, or saliva into their lungs, which can cause pneumonia. A feeding tube can reduce these risks and ensure proper hydration and nutrition.
Speaking
Most people with ALS develop weakness of the muscles used to form speech. This usually starts with slower speech and occasional slurring of words. It then becomes harder to speak clearly. As this progresses and it becomes harder to understand the person’s speech, other communication and technologies can be used to communicate.
Treatments
Treatments can’t reverse the damage of ALS, but they can slow the progression of symptoms. They can also help prevent complications and make people more comfortable and independent.
At UConn Health, a team of healthcare providers will work closely with our ALS patients, caregivers, and families, to select the right treatment, prolong survival, and improve their quality of life.
Medications
Several medications can help treat the various symptoms of ALS, and new drugs are being developed all the time. The Food and Drug Administration has approved two medicines for treating ALS.
Edaravone (Radicava)
Given through a vein, by mouth, or by feeding tube, this medicine may reduce the speed of decline in daily functioning. The effect on life span isn’t yet known. Side effects can include bruising, headache, and trouble walking. This medicine is given daily for two weeks each month.
Riluzole (Rilutek, Exservan, Tiglutik)
Taken by mouth or by feeding tube, this medicine can increase life expectancy by about 25%. It can cause side effects such as dizziness, gastrointestinal conditions, and liver problems. Healthcare providers typically monitor liver function with periodic blood draws.
Symptoms Relief
A healthcare provider might also prescribe treatments for relief of other symptoms, including:
- Muscle cramps and spasms
- Constipation
- Fatigue
- Excessive saliva and phlegm
- Pain
- Depression
- Sleep problems
- Uncontrolled outbursts of laughing or crying
Therapies & Support
There isn’t a cure for most forms of ALS yet, but therapies and other forms of support can help relieve and manage the symptoms.
Genetic Counseling
In cases of familial ALS, a genetic counselor or geneticist can help explain how the gene may be passed down in a family. They provide information about genetic testing and help families understand what the results might mean for their health and future planning.
Nutritional Support
As ALS progresses, it’s important to ensure that foods are easier to swallow and meet nutritional needs. Nutrition drinks or supplements can help prevent weight loss. A feeding tube might be placed when it becomes too hard to swallow.
Occupational Therapy (OT)
Occupational therapy focuses on developing or maintaining the physical skills needed to remain independent and perform everyday tasks. Adaptive equipment can help with dressing, grooming, eating, and bathing. An occupational therapist can also help modify the home for accessibility and safety.
Palliative Care
Palliative care providers support patients and families as they adjust to an ALS diagnosis and learn to live with a long-term illness. They also help manage symptoms like pain, breathing problems, and muscle stiffness to improve comfort and quality of life.
Physical Therapy (PT)
A physical therapist can address pain, walking, mobility, bracing, and equipment needs to improve physical movement and overall mobility. Low-impact exercises can help maintain cardiovascular fitness, muscle strength, and range of motion for as long as possible. Regular exercise can also help improve a sense of well-being. Appropriate stretching can help prevent pain and help muscles function at their best.
Psychological & Social Support
The healthcare team includes a social worker to help with financial issues, insurance, getting equipment, and paying for needed devices. Psychologists, social workers, and others may also provide emotional support, including counseling, for patients, caregivers, and families.
Psychotherapy
It’s normal to feel depressed and/or anxious after being diagnosed with ALS, and a counselor or psychiatrist can help if there’s difficulty coping with the mental and emotional side of the disease
Respiratory Therapy
A respiratory therapist can perform breathing assessments for monitoring progression. They also teach new breathing and coughing techniques to help keep airways and lungs clear and healthy. If other forms of ventilation are needed, they can help evaluate those options.
Speech Therapy
A speech-language pathologist can help with problems related to speaking and swallowing. As speech becomes harder to understand, they can suggest tools and techniques to make communication easier, like using a smartphone app, an alphabet board, or even pen and paper. They also help make sure foods are the right texture so that eating is safe and comfortable.
Potential Future Treatments
Based on the current understanding of ALS, a wealth of new scientific knowledge about ALS has occurred in recent years, and researchers are conducting clinical studies on promising medicines and treatments.