Amyotrophic Lateral Sclerosis (Lou Gehrig’s Disease) – Symptoms, Diagnosis, Treatment And Recommendations
Amyotrophic lateral sclerosis (also known as Lou Gehrig’s Disease) is characterized by a progressive loss (reduction) of certain nerve cells, of the brain and spinal cord, called motor neurons. Motor neurons control voluntary muscles, muscles that make movement possible.
Amyotrophic lateral sclerosis is a progressive, debilitating, and a fatal disease. Walking, talking, eating, swallowing and other basic functions become more difficult with time. These conditions can cause different injuries, illness and other problems.
One to two people in 100,000 develop amyotrophic lateral sclerosis each year. Men are affected slightly more often than women. Although it can occur at any age, it is more common in middle-aged and elderly people.
The causes of amyotrophic lateral sclerosis are unknown. About 5-10% of people with amyotrophic lateral sclerosis present an inherited form of the disease. Amyotrophic lateral sclerosis is not contagious.
Amyotrophic Later Sclerosis Symptoms
Amyotrophic lateral sclerosis symptoms include:
- Weakness or lack of precision in the hands and feet;
- Gradual loss of strength in hands and feet;
- Failure of voluntary control of hands and feet;
- Muscle spasms;
- Insecure, rigid walking;
- Difficulty in swallowing, speaking and breathing;
- Frequent nightly muscle cramps, which may occur later in the disease;
- Pain in the last stages of the disease.
It is important to remember that muscle weakness, fatigue, stiffness and muscle spasms do not necessarily indicate that amyotrophic lateral sclerosis is present. The first sign of amyotrophic lateral sclerosis is usually slight weakness in one of the legs, one of the hands, the face or tongue. Other problems may include increased clumsiness and difficulty performing tasks that require precise movements of the fingers and hands. Muscle spasms can occur. The weakness spreads to the hands and feet over several months or years. As the number of neurons continues to decrease, the muscle cells that are normally stimulated by these nerves also start to reduce in number and as an effect, muscles weaken.
Respiratory diseases are the most common serious complications of amyotrophic lateral sclerosis. While the neck and chest muscles become atrophic, swallowing and coughing become more difficult, which sometimes lead to aspiration of food or saliva into the trachea. This causes pneumonia (inflammation of lung tissue). Breathing problems worsen as the disease progresses, increasing the risk of infection and respiratory failure.
Pneumonia, pulmonary embolism, respiratory failure and heart failure (probably due to the lack of proper breathing after muscles weaken) are the most common causes of death amongst patients with amyotrophic lateral sclerosis. In most cases, death occurs no later than 3 to 6 years after the onset of symptoms, but some individuals survive for many years or even decades.
Amyotrophic Lateral Sclerosis Diagnosis
The diagnosis of amyotrophic lateral sclerosis is based on a detailed history, a physical exam of the nervous system and tests that evaluate nerve and muscle function. If amyotrophic lateral sclerosis is suspected, referral to a neurologist is recommended for diagnosis and treatment. A thorough medical history and a physical exam of the nervous system can usually help the neurologist diagnose the disease. Tests needed to confirm the diagnosis include an electromyogram (EMG) and Nerve conduction studies. The EMG helps measure the quality and rapidity of the nervous system and muscles. Nerve conduction studies test nerve activity.
Based on medical findings during the nervous system examination and the EMG and Nerve conduction studies results, other tests may be necessary to exclude other possible causes of symptoms. These tests include a muscle biopsy (tissue sample), blood tests and imaging tests, such as computer tomography (CT) or magnetic resonance imaging (MRI). Amyotrophic lateral sclerosis can be difficult to diagnose and the diagnosis can’t be elucidated before symptoms progress or until further testing and examination have not been performed. If amyotrophic lateral sclerosis is suspected, evaluation by a specialist who has experience in treatment and diagnosis of amyotrophic lateral sclerosis may lead to early diagnosis.
Even if it doesn’t affect the course or evolution of amyotrophic lateral sclerosis, early diagnose may:
- Allow more time for decisions about the future and taking advantage of the time before symptoms become severe;
- Help avoid unsatisfactory results of treatment derived from an incorrect diagnosis;
- Give the opportunity to participate in clinical trials of new amyotrophic lateral sclerosis treatments.
Amyotrophic Lateral Sclerosis Treatment
Although there is no cure for amyotrophic lateral sclerosis, treatment can help maintain stability and independence, keep symptoms under control and avoid complications as much as possible. Treatment is targeted and offers emotional support as the disability worsens. Occupational and physical therapy can help maintain strength and function and helps most people stay fit. Speech therapy can help preserve the ability to communicate as speech disorders develop.
Medication can be used to relieve symptoms. Medication includes:
- Baclofen, tizanidine, dantrolene and benzodiazepines like Diazepam to reduce stiffness, spasms and convulsions;
- Quinine, phenytoin sodium, benzodiazepines or gabapentin to relieve muscle cramps;
- Morphine to relieve dyspnea (difficult breathing);
- Diazepam or lorazepam durgs that can help relieve anxiety caused by the respiratory disease;
- American Academy of Neurology recommends acupuncture as an adjunctive method for breathing problems used in addition to medication or use of devices for artificial respiration;
- Antidepressant medication improves depression, insomnia, reduced appetite or fatigue and reduces the production of saliva (which can help patients who have the salivation controlling muscles affected);
- Medication that helps relieve pain and reduce muscle pain, which often occurs late in the disease.
If there are problems with food and saliva aspiration into the trachea, a tube can be inserted through the skin into the stomach (percutaneous endoscopic gastrostomy or PEG). This tube provides an easier way for adequate nutrition and medication managing.
Breathing apparatus (ventilators) may be necessary as the chest muscles are affected. Initially, additional oxygen can be administered through a nasal cannula, a flexible plastic tube that is placed in the nasal cavity. For patients with mild respiratory disease, non-surgical procedures can be used for ventilation. These include the use of positive pressure ventilation on two levels and noninvasive positive pressure, providing additional oxygen through a face mask. However, in some cases, tracheostomy (incision in the neck that opens trachea) can be done and oxygen can be delivered through a tracheostomy tube fixed into the incision.
The drug called Riluzole can extend the life expectancy of patients with amyotrophic lateral sclerosis by several months. It is not known if the medication is effective but it causes slow release of certain chemicals in the brain (neurotransmitters) that are believed to have role in amyotrophic lateral sclerosis. Riluzole is the only drug approved for the treatment of amyotrophic lateral sclerosis.
There are several disadvantages in the use of Riluzole. Although it has been shown to extend the life by several months, there is no visible improvement in either symptoms or quality of life. Most individuals tolerate Riluzole well, but adverse effects such as nausea, vomiting, weakness, dizziness and coughing can occur. Because Riluzole can cause liver damage, patients taking the drug should have their liver function investigated. Riluzole is also expensive and may not bring benefits to patients who have atypical forms of amyotrophic lateral sclerosis.
Amyotrophic Lateral Sclerosis Home Treatment
For patients with amyotrophic lateral sclerosis, it’s important for both themselves and their family to learn how to cope with the effects of the disease. A big part of the treatment and care is done at home and a good home treatment can sometimes help keep symptoms under control and prevent complications. Early in the disease, light aerobic exercise and slow, easy stretching can help maintain strength, reduce fatigue and depression and prevent cramps and muscle spasms. A physiotherapist can recommend the planning of a scheme of activities without any risk and assess the always changing necessities of the disease. Patients with amyotrophic lateral sclerosis often have chewing and swallowing disorders. Changing the diet can help avoid suffocation and ensure an adequate nutrition. This may include: frequent and divided meals, and opting for easy to swallow soft foods. As amyotrophic lateral sclerosis progresses it will become increasingly difficult to mobilize and perform major daily activities. A variety of equipment and auxiliary equipment can help avoid injury and maintain independence. These may include:
- A cervical collar to support the head if the neck muscles weaken;
- Protective device for feet and ankles, cane, walking frame, wheelchair that helps mobility;
- Ramps, handrails, high toilet seat or shower seat;
- Writing board that can be erased, voice amplifiers or other devices that ease communication when speech becomes difficult.
There are many other devices that help bathing, feeding, dressing and communication. Consult an occupational therapists’ recommendation for the best equipment and information on what changes should be made to a house that ease the life of the patient and would help avoiding any life-threatening situations. Seek medical advice regarding the need for the medical home assistance of a nurse.
Amyotrophic Lateral Sclerosis Recommendations
The thorough study of the disease and it’s care options is recommended for individuals suffering from amyotrophic lateral sclerosis or who have a family member with amyotrophic lateral sclerosis. As the disease progresses, the best treatment and care measures must be taken. Whilst confronting the decisions that must be made, it should be kept in mind that what is useful for a person with amyotrophic lateral sclerosis can have a detrimental effect for others. Some patients want to try any medical treatment that is capable to prolong life, while others prefer comfort measures that do not necessarily prolong life. Analysis of the type of treatment chosen can be helpful. An assessment on how agressive the amyotrophic lateral sclerosis complications (e.g. respiratory diseases, eating difficulties, pneumonia, etc.) will be treated must be done before a treatment plan is decided. These options may require reconsideration during disease evolution because they can change after a while. Some questions to consider are:
- Is tracheostomy accepted when dyspnea worsens? Tracheostomy ensures long-term assisted breathing by making an incision in the neck in order to open the trachea; oxygen can be supplied through a tube inserted into the hole created by the incision. There are other methods of assisted breathing that less invasive and can be used before tracheostomy, but most people with this disease face the decision of long term mechanical breathing assistance.
- What type of treatment is needed if pneumonia or other serious lung infection develops?
- Would the patient accept being fed through a tube placed in the stomach if swallowing ability is reduced or lost?
- Choosing the person (attendant) to take and execute decisions in case of loss of ability to speak.
At a certain point in the evolution of amyotrophic lateral sclerosis, the purpose of the patient or close relatives may change from treating illness to maintaining comfort and dignity. Nursing homes channel their actions on reducing pain and other symptoms and ensuring a peaceful environment until the end of life.
The progressive, debilitating nature of amyotrophic lateral sclerosis and the fact amyotrophic lateral sclerosis does not have a curative treatment makes amyotrophic lateral sclerosis a very difficult to manage disease. In addition to medical treatment it is necessary to provide emotional support by family, friends, doctors and other categories of people. Group support received from other patients with amyotrophic lateral sclerosis can be very useful as well as consulting a psychologist or psychiatrist. The patients’ families also need support as the disease worsens. Group therapy or advice may be useful for them. An organization like the ALSA (Amyotrophic Lateral Sclerosis Association) provides information and support services for people with amyotrophic lateral sclerosis and their families.