© 2022 HealthNews - Latest tech news,
product reviews, and analyses.

Amyotrophic Lateral Sclerosis (ALS): Diagnosis and Stages


ALS is typically called Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with it in 1939. Right now, someone is diagnosed with ALS every 90 minutes, and someone dies from it. This fatal, progressive, neurodegenerative disease can strike anyone at any time. It affects nerve cells or neurons in the spinal cord and brain and causes muscle wasting. It can take away the ability to walk and even the ability to breath in the end stage.

There is no cure for Lou Gehrig’s disease. Patients usually die within three to years. Some people can live 10 years or more like the famed physicist Dr. Stephen Hawking.

Signs and symptoms

Signs and symptoms are very different from one person to the next, depending on the specific nerve cells involved. It frequently starts with muscle twitching or cramps and isolated muscle weakness (an arm, hand, leg, or foot), difficulty chewing or swallowing or slurred speech. It is initially so subtle that the symptoms can be overlooked. The weakness spreads and gets progressively worse.

Other signs and symptoms include:

  • Hand weakness or clumsiness – inability to turn a key or fasten a shirt
  • Trouble walking without stumbling
  • Inappropriate crying, yawning, or laughing
  • Cognitive and behavioral changes

When symptoms occur in a limb it is referred to as “limb onset” ALS. If speech or swallowing problems are noted it is called “bulbar onset” ALS. Bladder control or your senses are not affected by Lou Gehrig’s disease.

According to the National Institutes for Health ALS affects neurons that control voluntary muscle movement such as self-feeding and dressing versus involuntary such as breathing and swallowing. These nerve cells travel from the brain down the spinal cord to muscles throughout the body. They become damaged and stop sending signals to the muscles, so the muscles won’t work. The muscles slowly atrophy until they die.

Risk factors

There are several risk factors that enhance the risk for acquiring Lou Gehrig’s disease.

  • Age – Aging is a risk factor for ALS. Most common between the ages of 40 and 60 years old, with the average age of 55. Cases between 20 and 30 years of age are rare.
  • Heredity – Five to 10 percent have the familial form and their children have a 50% chance of developing the disease having inherited it from a parent. Only one parent needs to be a carrier of the disease. Twenty-five to forty percent of familial cases are caused by a mutation in the C9ORF72 gene, which makes a motor neuron protein. Twelve to twenty percent of familial cases result from a defect in the SOD1 gene.
  • Gender – women have a greater risk before the age of 65 years old, but this risk is eliminated after 70 years of age.
  • Genetics – Genetic variations of ALS may put people at greater risk of developing ALS.
  • Exposure to environmental toxins such as lead and other substances in the home and worksite.
  • Smoking – Greatest risk for post-menopausal women.
  • Military service increases risk of ALS 1.5 to 2 times more likely to increase risk due to exposure to certain chemicals like pesticides or metals, viral infections, traumatic injuries, diet, extreme exertion, and other behavioral and occupational factors. According to the U.S. Department of Veteran Affairs ALS is recognized as a service-connected disease.
  • Race and ethnicity – Being Non-Hispanics or Caucasian is a risk factor for ALS.

Most cases of ALS are sporadic, meaning there is no known reason for its occurrence. Many cases are random and have no clear risk factor. In 2021 a gene was discovered by the National Institute of Health called the SPLC1, that causes a form of Juvenile ALS (JALS) in children as young as four years of age. The gene is involved in the body’s production of fat.

There are four stages to ALS

Stage 1: The beginning

Muscles become weakened, sometimes spasticity and tightness set in. Twitching and cramping become evident. One or more regions of the body are usually involved. The patient may experience a variety of losses due to beginning ALS. Fatigue will set in, and balance will decline. With leg muscle atrophy and weakness, the ability to walk, stand, get out of bed, and transfer into the tub deteriorates. Arm and grip strength decline affecting the ability to bath, dress and groom. Occupational therapy and physical therapy may be necessary as well as assistive equipment. These are provided to maintain function. Trouble talking will result in slurring of words.

Stage 2: The middle

In this stage muscles will stiffen or become paralyzed. ALS will cause painful contractures, which is a fixed tightening of muscle, ligament, and tendon. Joints will become deformed, and the patient will have difficulty standing independently. The patient will have weakness in the muscles of the mouth. This, in combination with a dry mouth, makes chewing and swallowing dry and liquid foods very difficult. Food may enter the lungs and cause pneumonia. Eventually speech becomes difficult for others to understand, and the person with ALS will likely rely on other communication technologies to communicate needs. Sometimes, the patient will have emotional outbursts including excessive crying or laughing for no apparent reason.

Stage 3: The late stage

At this point 90% or all the voluntary muscles in the body will be fully paralyzed. Breathing is extremely compromised by muscle paralysis. The patient might need a device to help them breathe at night. They may be given a bilevel positive airway pressure (BiPAP) device which consists of a mask worn over their nose, mouth, or both. Some people with ALS may choose to have a tracheostomy. This is a surgically created incision creating a direct airway to the windpipe (trachea) — so that a full-time use of a respirator that inflates and deflates their lungs can be used.

Speech will be disoriented and eating and drinking through the mouth will become almost impossible and will have to be through another source. This may be resolved using a feeding tube through the nose (nasogastric tube) or tube directly to the stomach (gastrostomy tube). Mobility is very restricted. Patient is now dependent for all personal care and will need full time access to a nurse or other qualified adult. Constant complaints including those of headaches and dizziness are reported. Sometimes a form of dementia may occur, although this is in a small number of people.

Stage 4: The ending

In the final stage of ALS, the patient may pass away due to ventilatory muscle failure or the inability to use their lung muscles. In fact, this is the most common cause of death. Swelling of passageways while swallowing food can result in choking and may be fatal. Abnormalities may cause fatal cardiac arrests. At this stage hospice may be involved.

Conclusion

ALS is a fatal disease. There are known risk factors however ALS can also be very random. Initially the symptoms are so subtle that it cannot be diagnosed. Once diagnosed it follows four stages, initially benefitting from nursing and therapy and at the end, hospice care.

Key takeaways

ALS is typically called Lou Gehrig’s disease, named after the famous baseball player who was diagnosed with it in 1939.

It frequently starts with muscle twitching or cramps and isolated muscle weakness (an arm, hand, leg, or foot), difficulty chewing or swallowing or slurred speech.

Risk factors include your age, gender, genetics, exposure to chemicals and smoking, and military service.

Once diagnosed it follows four stages, initially benefitting from nursing and therapy and at the end, hospice care.

Resources:

Mayo Clinic. Amyotrophic Lateral Sclerosis Symptoms and Causes.

National Institute of Neurological Disorders and Stroke. Amyotrophic lateral sclerosis fact sheet.

Partners in Health Care. The 4 stages of ALS Lou Gehrig’s disease.

Leave a Reply

Your email address will not be published. Required fields are marked