Living with a neuromuscular disorder is a continually changing challenge. Although neuromuscular disorders are degenerative diseases, the rate at which neurons and muscles degenerate is unpredictable and varies greatly from one individual to another. In some cases the disease seems to have reached a plateau, while in others it reaches a standstill for varying lengths of time. Also, neuromuscular disorders can progress steadily at a rapid or slow rate. Whatever the rate of muscle degeneration, you should remain as active as possible, without causing fatigue in affected muscles. It also helps to focus on what you can do, rather than on what you can't do.
Clearly there will be times when you feel frustrated if you can’t do all the things you used to, but it does help to keep as normal a lifestyle as possible. Particularly important is to ensure that everyone in the family maintains their individual roles, even if everyday jobs need to be shared out differently. Listed below are some of the activities of daily living that may be affected by your neuromuscular disorder, followed by some suggestions on how to deal with these changes.
Joint and Muscle Pain
Persons with neuromuscular disorders who lose significant muscle function in areas that involve joints may end up not using those joints to their full capacity. Lack of use can cause stiffness and joint pain. Your physiotherapist can show you range-of-motion exercises that are designed to prevent these joint problems. Careful attention to your exercise regime, whether active (doing it yourself) or passive (with assistance), will eliminate much potential joint pain. However, there are still a number of common pains that can develop. If your arms are weak and you allow them to hang unsupported from the shoulder, there is a tendency for the shoulder joint to become painful. It is helpful to support weak arms whenever possible on pillows, armrests or on a table.
A shoulder sling will also give the arm some support and decrease strain on the shoulder joint while you are walking. Hip pain can result from prolonged sitting in a sagging seat or chair. A firm seat on a regular chair or wheelchair will relieve strain on the hip joints.
Leg and Foot Swelling
If your lower limb mobility is reduced, you may experience mild leg and foot swelling, which is best reduced by moving the toes and ankle, if possible, and by elevating the leg and/or using an elastic stocking. Talk to a nurse about how best to address this problem.
Cramps are not uncommon in people with neuromuscular disorders. They can be alleviated to some extent by keeping the affected muscle warm and by stretching it or having your caregiver stretch it until the pain is eased. Severe or frequent cramps should be discussed with your doctor. There are a number of medications available to reduce cramping.
Changes to Posture
If the muscles that maintain your upward posture weaken, you may have discomfort in your lower back, neck and shoulder blade region. Special cushions, chair backs, lumbar (lower back) and cervical (neck) rolls are available to help you to maintain correct sitting posture. It may be necessary for you to sit in a reclined position or to use a neck collar to maintain proper positioning. Your occupational therapist can assist you in choosing the right device.
If you experience weakening leg and ankle muscles and unexpected fatigue, tripping and falling become problems. When these problems occur you should consider using leg and ankle splint devices (ankle foot orthoses - AFOs) that provide added support to weakened muscles, or a cane or walker as soon as you are threatened by unexpected falls. Some people are self-conscious about having to use walking aids, or see it as an announcement that their condition is worsening. These are completely normal reactions. However, you must also think about preventing injuries that will inhibit your independence further, or cause serious harm to you such as a head injury.
Difficulty Gripping and Holding
Some people with neuromuscular disorders lose strength in the hand and wrist muscles, losing the ability to manage small hand movements such as holding a pen to write, or cutlery to eat, turning a key to start a car, or turning a handle to open a door. There are a variety of products designed to assist you with weakened grip strength.
If these weaknesses continue to develop, you can lose your ability to hold even lighter weight articles. Getting dressed and undressed becomes more and more difficult, and then impossible to do alone. As this process occurs, dressing can be made easier with Velcro fasteners, elastic waistbands, and other features that make clothing easier to put on and take off.
Cold or hot hands can weaken the grip of most people. For persons with neuromuscular disorders, however, this is even more pronounced. If your fingers get cold you will probably be surprised by how much harder it is to do such things as undo buttons, or turn a doorknob. An occupational therapist will be able to help you with specific strategies. Some OTs specialize in hand movement and therapy.
As your neuromuscular disorder progresses, there are various types of equipment available to assist you with your mobility needs. With respect to moving about, some may need a cane or a walker at first, then a manual wheelchair, followed by a power wheelchair to assist in maintaining a certain level of independence. Also, there are raised chairs and toilet seats which are easier to get up from, and portable hoists to move a person around.
Regarding eating, there are eating utensils that can assist and increase independence - cutlery with large easy-grip handles, non-slip mats and special plastic plates. Choosing the best assistive equipment for your situation involves many considerations, including an understanding of longer-term needs. It is advised that you get advice from a healthcare professional such as an occupational or physiotherapist before acquiring assistive equipment.
Fatigue occurs as a result of weakening muscles, suspected higher metabolic functioning in some patients, and declining breathing function. One of the first ways you can combat fatigue is to conserve your energy for really important tasks or activities that you really enjoy. An occupational therapist can plan a daily routine with you that will help you to adapt to life with a neuromuscular disorder. Some tasks can be done in different ways that will save some of your energy. There are a large number of aids that can help you to do the things you now find difficult. It is essential that you consult your therapist before buying an aid to avoid expensive mistakes.
If you tend to wake up in the morning feeling very fatigued and light headed, discuss this with your doctor promptly as you may not be breathing well enough in the night, thus requiring a respiratory function evaluation and some airway management strategies.
Eating and Nutrition
Continue to feed yourself as long as possible. However, if you feel too weak to manage a whole meal by yourself, or have trouble with muscle control to operate knives, forks and spoons, ask for help from your caregiver. For instance, your caregiver could help a lot just by cutting your food for you. An occupational therapist can also help by showing you how to adapt your eating utensils so they are easier to grip, or adjust the height of your eating surface so you have less distance between the plate and your mouth. When swallowing difficulties arise, or jaw muscles involved in chewing are weakened or stiff, your dietitian will be able to help you with how to eat, what to eat, and how to modify food textures to make eating easier and safer. When difficulty with eating is accompanied by weight loss, you should talk to your doctor about the possibility of tube feeding.
Constipation may occur as a result of inactivity or lack of adequate fiber or water in the diet. For those using tube feeding, it may be especially difficult getting sufficient fiber and hydration. In either case, if you are experiencing constipation, ask a dietitian about ways to add more fiber to your diet. If adding fiber to your diet doesn't solve the problem, see a doctor about an appropriate medication.
Within neuromuscular conditions there can be a range of issues with feeding and nutrition. This may vary with different diagnoses. Normal, healthy growth is measured according to weight and height. Charts are available which outline the ranges of weight, which are considered to be healthy. For people with neuromuscular disorders this range is extended slightly to account for different amounts of muscle. Growth patterns that may require attention and monitoring are either being overweight for height (an indication of excess nutrition), or underweight for height (insufficient nutrition).
Some people with neuromuscular disorders may lose function in their mouth and throat which makes eating and drinking a challenge. Due to fear of choking, or frustration and fatigue with the time it takes to eat a meal, some individuals may eat less, resulting in not getting enough nutrition (calories and nutrients), weight loss, worsened fatigue, and weakness.
Fatigue plays a very big role in why a person's nutritional status declines. Weight loss occurs because with some neuromuscular disorders, increased energy is required for all activities including eating and your body's basic energy requirements are higher (increased basal metabolic rate). Weight gain can also be a problem as mobility is decreased, and calories are not being burned off. Therefore, addressing issues with the mechanics of eating and drinking (controlling food and swallowing) and alternative dietary solutions is critical in the management of neuromuscular disorders. The speech language pathologist and dietitian on your healthcare team, along with your doctor, will be your major resources for adapting to swallowing problems, maintaining good nutrition and managing weight problems.
If you have been diagnosed with a neuromuscular disorder, you may have noticed some changes in your breathing. While neuromuscular disorders do not impair the lungs themselves, the muscles involved in breathing and coughing will become affected over time. Breathing can be significantly impaired without complaints of breathlessness due to the reduction of physically demanding activities, or wheel chair use. Impairments may not be detected until there is a lung infection likely occurring because of limited breathing ability.
Symptoms such as chronic headaches, ever-present fatigue, and increased muscle weakness are all possible warning signs of respiratory trouble. People with neuromuscular disorders need to take a proactive approach when looking at respiratory weakness, and the key is understanding when you might be at risk, knowing what the symptoms might be, and starting to build a working relationship with doctors and other respiratory health professionals. The best way to minimize the effects of respiratory problems is to be proactive and to monitor breathing function throughout the course of the disorder.
The reality is that how and when to address respiratory issues in neuromuscular disorders remains debatable and is practiced differently across the world. Methods used to monitor lung function vary among doctors even in the same country or city. Nonetheless, most neuromuscular clinical specialists believe regular monitoring promotes early detection of breathing problems, prevention of unnecessary emergencies, and opens the door for making decisions about therapeutic options available to you in a timely manner.
The Guide to Neuromuscular Disorders will explain the breathing process and provide overviews of symptoms of changes in breathing, tests that may be used to monitor breathing function, respiratory infections, airway management techniques, and options for mechanical ventilation and the decision-making process.
Mechanics of Breathing
Understanding how we breathe – the process by which we pull fresh air into our bodies, and push stale air out – is an important part of recognizing and diagnosing any respiratory trouble. Normal “easy” breathing involves two main muscle groups. When you breathe in, the diaphragm moves down; at the same time the intercostal muscles between your ribs contract to pull your rib cage up and out. These two actions cause a partial vacuum. Fresh air rushes down the trachea (windpipe) through the bronchi, the largest air passages in your lungs, and then into the small air sacs (alveoli), which pass fresh oxygen (O2) to the blood. This process is called inspiration.
As the diaphragm pulls downward and muscles in the rib cage pull the ribs outward, air moves into the lungs, down the pharynx (throat) and into the trachea, and then down into the bronchi, bronchioles and, finally, the alveoli, the air sacs. When you breathe out, both diaphragm and intercostals muscles relax, and the lung recoils decreasing the size of your chest cavity. Used air that contains waste carbon dioxide (CO2) is pushed out of your lungs. This process is called expiration.
If you are breathing heavily, two additional muscle groups come into play: when you take a deep breath in, muscles in the neck that attach to the collarbone and upper ribs assist in breathing; and when you force a breath out, your abdominal muscles help to push up the diaphragm.
You can see that there is a great deal of voluntary muscle involvement in the act of breathing. Since neuromuscular disorders can cause muscle atrophy (wasting) and weakness, it is easy to understand that changes in breathing will occur, even though your lung tissue may be very healthy. Individuals with pre-existing lung disease may be more affected as their neuromuscular disorder progresses.
Symptoms of Weakened Breathing Muscles
Shortness of Breath with Activity
Shortness of breath may be the first symptom of the weakening of breathing muscles. You may notice shortness of breath after rushing upstairs, carrying a load, etc. Shortness of breath can also occur with no particular exertion; you may not be able to walk or talk for long without becoming winded. You should tell your doctor about these symptoms.
When you experience shortness of breath, stop what you are doing. Shortness of breath will disappear when activity is reduced. Relax in one of the following positions if you are able and breathe slowly and deeply.
Sit at a table, lean forward with a straight back and rest your head and shoulders on a pillow on the table.
Sit on a chair or the edge of your bed, lean forward, keep your back straight and rest your elbows and forearms on your thighs.
Lean against a wall with your feet about 12 inches from the wall. Rest your lower back against the wall and lean your upper back away from the wall
Fatigue, or tiredness, is a common symptom of neuromuscular disorders. It is caused by a number of factors. As neuromuscular disorders attack your motor neurons, they become unable to send commands from your brain to the muscle cells that they control. A smaller number of muscle cells must then try to perform jobs usually done by the full number. The result is that your muscles tire before they normally would. When your respiratory muscles are affected by a neuromuscular disorder, you may be less able to clear the amount of CO2 you need to and therefore O2 may also be reduced. When activity increases, it becomes more difficult for the lungs to supply enough oxygen to the body. Other metabolic changes take place and you feel fatigued.
Besides the physiological changes that may cause fatigue, neuromuscular disorders produce many changes in your life. Change often results in general stress that can also manifest itself as fatigue. Do what you can to prevent getting tired. Rest when you begin to feel tired. Try to keep your exertions within the limits that your body is now imposing. Pay attention to signals like fatigue. It may be necessary for you to change your priorities and forego less important activities. Plan your day to include regular rest periods.
Some people with neuromuscular disorders experience morning fatigue. You may wake up feeling tired, sometimes with a headache, and the feeling that you slept poorly. This may be caused by obstructive sleep apnea and/or under-ventilation.
Obstructive sleep apnea occurs when weakened (bulbar) muscles of the upper throat and pharynx result in noisy breathing, snoring, or closing off the upper airway while sleeping. Sleep apnea is characterized by intermittent reduction or stopping of breathing. A decrease in the oxygen (O2) saturation of the blood can result.
Hypoventilation occurs when the relaxation of nerve and muscle functions during sleep may lead to under-ventilation (hypoventilation) causing carbon dioxide (CO2) levels to rise. For example, when you stand upright, the diaphragm moves down when you breathe in. When you lie down, the organs in your abdomen press against the diaphragm, and more strength is required for the diaphragm to move down during breathing.
To help cope with this problem, you may want to try to raise your head and shoulders during sleep. It is best to raise the whole torso by using blocks under bed 4" to 6" high, a wedge pillow 6-8" at its highest point, or a mechanical bed. If you do not have access to the best solutions, try putting two or more pillows under your head and shoulders until you do.
Obstructive sleep apnea and under-ventilation often occur together; therefore, nocturnal oximetry or a sleep study may be advised.
Excess Mucus and Secretions
In some people, excess mucus and secretions can build up to the point where they cannot be easily cleared by coughing. This is particularly the case first thing in the morning when secretions have built up during the night. If you experience this problem, ask your doctor for a referral to a physiotherapist or respiratory therapist to instruct you in methods to loosen secretions and bring them to the mouth to be spit out. One method of dealing with mucus and saliva build-up is suctioning. Suction equipment acts very much like a dentist's suction tube; it consists of a motor, collection bottle, tubing and catheters. However, some healthcare professionals believe suctioning may be counter-productive for persons with neuromuscular disorders. Talk to your respiratory therapist or respirologist about whether suctioning may be right for you, and if there is anything else you can do to reduce mucous build-up, such as assisted cough techniques, cough assist devices or use of medications such as Amitryptilline, Transderm V, Atropine, Glycopyrolate, and beta-blockers.
During a cough, the diaphragm and additional muscles completely fill the lungs. Then, abdominal muscles and intercostal muscles between the ribs contract quickly generating a high pressure against a glottis (larynx) that is closed by force. The glottis is then suddenly opened and a very high velocity flow of air is pushed from the lungs and up the airway. Any mucus or food in one of the air passages is forced out as well. People with neuromuscular disorders have normal cough reflexes, but the muscles involved may be weakened and unable to produce a strong enough cough. You can strengthen your cough using techniques described in more detail on the web site of The Rehabilitation Centre in Ottawa. You will need to consult with a skilled professional to train you and your family.