In the beginning, patients with neuromuscular disease often do not show symptoms of difficulty in breathing caused by oxygen deficiency, such as patients with general lung disease. Instead, some of the most common symptoms include fatigue, sleep apnea, nightmares and morning headaches. Additionally, anxiety, confusion, a loss of appetite and weight loss can be some of the symptoms associated with respiratory failure. Difficulty with coughing and talking means that respiratory muscles are weakening and that a patient is in a condition where it is difficult for him or her to expectorate sputum. If any of these symptoms appear in a patient, he or she must go through thorough pulmonary functional tests and receive treatment.

Because the ideal time to start a pulmonary functional evaluation depends on types of disease, patients must consult with their doctors. Generally speaking, a respiratory function test must be performed at least once or twice a year and the frequency varies with the age of a patient, the types of disease and a degree of disease progression. In addition, if a patient has a problem in sleep, concentrating or complains of headache, then it is necessary for the patient to be admitted to a hospital for a thorough pulmonary functional evaluation (Refer to the answer for Question 1). Oxygen saturation and pCO2 are measured and if any abnormality is found, the patient will be admitted to the hospital and a thorough medical examination will be performed to consistently monitor oxygen saturation and pCO2 while the patient sleeps.
There is a method referred to as a non-invasive ventilator assist, by which a patient uses a ventilator via a nasal mask or mouthpiece. Because a patient does not receive tracheostomy, a variety of side effects and complications secondary to tracheostomy, including eating or speaking difficulties, an increase of secretion, pneumonia, etc., can be prevented. This method, when compared to when a patient uses a ventilator via a tracheostomy tube, lowers the frequency and period of hospitalization due to complications of the respiratory system, reduces the emotional burden on a patient, strives for the greater nursing efficiency of a caregiver and improves the level of a patient’s satisfaction in their lives. However, it cannot be implemented for patients whose muscles around their mouths and throats are severely weakened so that something may choke on frequently and cannot pronounce speech properly.
It is a very dangerous idea to supply only with oxygen for a patient who shows breathing difficulties due to weakened respiratory muscles, as in muscular dystrophy or Lou Gehrig’s disease. If the respiratory muscles weakness is the cause of breathing difficulty, the biggest problem is the accumulation of carbon dioxide. If a patient with carbon dioxide that has accumulated in his or her body is provided only with oxygen, the difficulty in breathing can be alleviated. However, carbon dioxide intoxication may occur caused by a sharp increase of the level of carbon dioxide. In such a case, the patient may become delirious and undergo respiratory failure. Therefore, a ventilator that forces air into the lungs must be used, and when oxygen is needed. It must be provided to a patient by connecting a ventilator.
Very rarely will a patient be required to use a ventilator 24 hours from the beginning. When a patient suffers from respiration insufficiency due to respiratory muscle weakness, it is ideal to use a ventilator only for the amount required. For instance, if the respiratory muscles of a patient are capable of only 20 hours’ worth of respiration per day, then the patient would require ventilator support for just 4 hours. It would alleviate any problem for the remainder of the day since the patient can breathe without the use of a ventilator for those hours.

There are two different ways to connect the ventilator to patient - one is an invasive method, which is done via a tracheostomy tube, and the other one is a noninvasive method that uses a mask or mouthpiece. Unlike medication, a ventilator cannot be prescribed by a physician and used by patients. Patients must be hospitalized for at least 2 to 3 days since their breathing conditions must be thoroughly evaluated and determine optimal ventilator setting for each patient.

1) Noninvasive Treatment: Patients, after a tracheostomy undergo speaking and eating difficulties, and the procedure itself can cause a variety of side effects and complications that include increased amounts of secretion and can be a source of infection of the respiratory system. On the other hand, this method where a patient uses a mask without undergoing a tracheostomy, when compared with a patient who uses a ventilator after receiving a tracheostomy, lowers the incidence rate of pneumonia, lowers the number and period of hospitalization days due to complications of the respiratory system, reduces the emotional burden on a patient, strives for greater nursing efficiency of a caregiver, and improves the level of a patients’ satisfaction in their lives. One effect is that this is only applicable for patients who can pronounce speech correctly and avoid choking while eating.

2) Invasive Treatment: A tracheostomy is recommended for patients who are unable to expectorate sputum due to weakened coughing ability and have difficulties coughing as they frequently choke on. A ventilator can be used without a tracheostomy if the test result shows the patient’s coughing ability can be maintained at 160 liters per minute. However, this can be only confirmed when a medical team performs an examination. In general, a ventilator can be used without tracheostomy if the patient can speak fairly well and swallow food. A tracheostomy is a simple operation and it only takes about 2 days for a patient to fully recover from the procedure. There are many advantages to performing this procedure for those who have severe symptoms. In the worst-case scenario, brain damage may occur in patients if they swallow the wrong way or the airway becomes obstructed by sputum and treatment is delayed since oxygen is not delivered to the brain due to respiratory failure.

Steady exercise is the key to prevention of joint contracture, a secondary complication caused by the weakening of muscular strength and pain. The following are some principles of basic exercises one can do at home. For more information, please visit the website “www.kmdf.or.kr.” 1) Joint range of motion exercise Patients can practice this exercise that helps prevent joint contracture 3 times in 1 set twice a day by moving all the joints of the body within a normal range (the range in which a healthy person can bend or stretch as much as possible) and the exercise must be done actively once muscular strength and activities start to decrease. For joints with contracture has already developed, patients can apply a hot pack for 20 ~ 30 minutes before they do this stretching exercise. 2) Strengthening of Muscles This particular exercise is not effective for progressive diseases, unless it can be practiced in the early stages of the disease. Patients may experience an early onset of fatigue as healthy motor neurons share the role of damaged neurons in ALS patients and the amount of healthy muscles is reduced in patients with muscular dystrophy. It is important not to exercise excessively since a patient’s movement in daily life may be limited when fatigue accumulates. Therefore, if patients feel their muscular strength is weakening within 30 minutes after starting to exercise or they experience muscular pain or fatigue the next day, they must reduce exercise since they may suffer from pulled muscles. During the early stage of a disease, it is necessary for patients to regularly do some type of aerobic exercise such as walking, swimming, cycling, etc. even if they do not have any problem in their daily movements, and when their muscular strength significantly weakens so that they cannot overcome gravity as the disease progresses, they must start muscle strengthening exercises after consultations with their doctors. When weakened muscular strength starts to affect a patients’ daily life, they should go to the hospital once every 3 months to check muscle strength and receive training on exercises they can try at home. 3) Breathing Exercise As healthy people frequently take deep breaths, the compliance of lung is automatically maintained. However, in patients with ALS or muscular dystrophy whose muscular strength is consistently weakening, the compliance of lungs decreases since the weakened respiratory muscular strength is incapable of expanding the lungs normally. Once the compliance of lungs is reduced, a lot more effort is required for breathing, causing the accumulation of fatigue in the respiratory muscles. At this point, it is even more difficult for patients to breathe on their own. In many cases, a simple cold progresses to pneumonia because patients are unable to expectorate sputum due to reduced coughing ability. Also, air-stacking exercise must be practiced since the reduced vital capacity causes lung and thorax stiffness, and the associated decreased amount of pre-cough volumes can cause problems even after practicing assisted coughing. If the vital capacity is reduced by 50% or more, patients can expand their lungs by inflating the maximum amount of air by using a manual resucsitator bag, after taking a deep breath without aid. They must repeat this procedure 10~15 times in 1 set 3 times a day.
It is a very dangerous idea to solely use oxygen therapy for a patient who shows breathing difficulties due to weakened respiratory muscles. In such a case, the level of carbon dioxide is critical and many people believe that supplying only oxygen is a good idea as the level of oxygen is elevated. However, the level of carbon dioxide elevates causing the patient to become delirious and undergo respiratory failure. Therefore, a ventilator that inflates air into the lungs must be used and when oxygen is needed it must be provided to the patient by connecting a ventilator. Because it is difficult for patients to determine what kind of treatment is needed, when they suffer from a sudden difficulty in breathing, it is recommended that they are transported to a hospital immediately where they can use a ventilator. Once a ventilator is connected by using an endotracheal tube, patients have 2 weeks to determine whether they need a tracheostomy or not. If patients do not frequently develop aspiration and can speak fairly well, a tracheostomy is not necessary.
When patients have difficulty swallowing, they will gradually lose weight, and the associated continuous undernourishment may negatively affect the progress of a disease. Therefore, if their weight has decreased by 10% or more, they must consider a gastrostomy. Even if patients do not lose weight, if aspiration pneumonia occurs frequently, this particular surgical procedure must be considered. It is recommended that patients receive a gastrostomy even though they are not suffering from a severe loss of weight or aspiration pneumonia and if they can swallow without problem because when the respiratory function is significantly weakened, it then becomes difficult to perform the procedure. Patients can eat food with their mouths after receiving a gastrostomy as long as they don’t develop aspiration. Once patients receive a gastrostomy, the tube can be washed by pouring a small amount of clean water using a syringe after inserting food. The part that is inserted into the abdomen can be sterilized using peroxide or boric acid. There is no special equipment required for bathing. The tube can be wrapped in a plastic bag and sterilized after showering. Any insertion or replacement of a tube must be done at a hospital. It is recommended that the patient’s guardian makes an appointment for the patient to be hospitalized at least once a year for 2 or 3 days for a replacement of the gastrostomy tube, a pulmonary function check-up and receive an overall medical checkup.
Rilutek is a drug that is used to control excessive amounts of accumulation of glutamic acid, which is one of the causes of disruption to the motor neurons. It is known that the progress of the disease can be suppressed by taking this drug, but unfortunately the symptoms of patients cannot be halted or conditions will not improve to the point prior to contracting the disease. In other words, taking this drug consistently will not improve the conditions of the patients to the level at which they no longer require a ventilator, but the patients’ overall life span expands to a certain extent.
Cold can be treated in the same way used for healthy people, unless symptoms of respiratory failure are severe. Sputum must be expelled, but if it is not expectorated completely, then assisted coughing is required. Patients must receive training, at least once, on how to use the assisted coughing technique that assists them with weak coughing by using an Ambu Bag to inflate air into the lungs and by placing pressure on the abdomen. When patients occur aspiration they can use the assisted coughing technique or equipment that induces coughing. This equipment can only be utilized in a hospital
It has been reported that approximately 10% of the cases are hereditary. Amongst cases, the most common hereditary abnormality is caused by a genetic defect in the enzyme called SOD1. A few familial cases have been reported, and genetic defect testing can be performed in Korea as well. However, just because one family member has Lou Gehrig’s disease does not necessarily mean that genetic testing is necessary. If there are a number of family members who have suffered or who are currently suffering from the disease, however, testing is recommended as mandatory. Although there are many other genetic defects that have been identified, it is realistically impossible to test for all genetic abnormalities and the frequency is very low.
Patients who have Lou Gehrig’s disease often experience sleeping disorders. There are many causes of sleep disorders including pain associated with ankylosis, anxiety and breathing difficulties. First, the cause must be identified and corrected. If a patient still cannot sleep well, they can take sleeping pills that are effective for short periods of time. Patients with respiratory difficulties, especially ones that do not use a mechanical ventilator, must take extra cautions when taking these pills.
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