What is ALS/MND?
Amyotrophic lateral sclerosis (ALS) or Motor Neuron Disease(MND) is a progressive disease of the nervous system.The cause isnot known and there is no cure, although progress is being madeon both fronts. ALS/MND is also known as Lou Gehrig's diseaseafter the famous baseball player who died from it. The actorDavid Niven is probably this best known UK victim of MND.
ALS/MND attacks motor neurons, which are among the largest ofall nerve cells in the brain and spinal cord. These cells sendmessages to muscles throughout the body. In MND, motor neuronsdie and the muscles do not receive these messages. As a result,muscles weaken as they lose their ability to move. Eventually,most muscle action is affected, including those which controlswallowing and breathing, as well as major muscles in the arms,legs, back and neck. There is, however, no loss of sensorynerves, so people with MND retain their sense of feeling, sight,hearing, smell and taste. The mind is not affected by thisdisease and people with MND remain fully alert and aware ofevents.
The course of MND is extremely variable and it is difficult topredict the rate of progression in any single patient. For themajority of people with MND, weakness tends to progress over athree-to-five year period. MND can strike anyone, at any age, butgenerally MND occurs between the ages of 40 and 70. According tothe National Institutes of Health, some 4,600 people in theUnited States are newly diagnosed with MND each year. There aresome 6,000 people with MND in the UK. About 4 to 6 people per100,000 worldwide get MND. In a small percentage of patientsALS/MND is genetic.
What are the Symptoms?
The first signs of MND are often arm and leg weakness, musclewasting and faint muscle rippling. These symptoms occur becausemuscles are no longer receiving the nutrient signals they needfor growth and maintenance - a result of motor neurons dying. MNDnerve degeneration may also cause muscle cramps and vague pains,or problems with speech and swallowing. Some people with thedisease may lose some control over their emotional responses.They may laugh or cry much more easily than in the past.Eventually, all voluntary muscle action is affected.
How is ALS/MND Diagnosed?
There is no specific test for diagnosing MND. However, severaltests - including nerve conduction studies and electromyogram(EMG) - are used to measure how well and quickly the nerves areworking. Ruling out other causes of muscular weakness isimportant because MND often mimics other treatable diseases.Diagnosis requires special skills and neurologic tests. Peoplewith MND symptoms usually are referred to neurologists, whospecialize in the nervous system. Diagnosis may take severalmonths, since an important part of the diagnostic process is toconfirm disease progression.
What causes ALS/MND?
The cause of ALS/MND is unknown. It attacks its victims atrandom. However, it was recently discovered that five to tenpercent of those with ALS/MND show a definite genetic pattern. Inthis rare form, about one-half of the offspring may developALS/MND. These people show a gene defect that affects an enzymecalled superoxide dismutase. This enzyme eliminates toxicsubstances called free radicals. Free radicals can cause nervecells to die and are associated with a number of diseases andeven implicated in aging itself. For most people with ALS/MND,the vast majority of their children are not at any greater riskof developing this disease than the general population. This typeof ALS is often called "sporadic ALS" due to itsunpredictable nature.
ALS/MND researchers have found no difference between thesymptoms and disease progression in the sporadic and geneticforms of ALS/MND. Therefore, since the genetic and acquired formsof ALS/MND appear to be similar, an understanding of the cause ofto genetic form could lead to treatment for all forms of thedisease.
Treatment
While there is no cure for MND, research to solve the ALS/MNDpuzzle is ongoing. Scientific advances have led to approval ofthe first treatment for the disease - a medication that mayincrease survival time. Other treatments under investigationinclude several nerve growth factors which may help maintainquality of life by maintaining nerve function. While each ofthese therapies represent a step forward for people with ALS, acure remains to be discovered.
For the majority of people with MND, the primary treatmentremains the management of MND symptoms. Patients need to take anactive role in the design of their treatment regimen. Ideally,MND management involves physical, occupational, speech,respiratory and nutrition therapy. For instance, certain drugsand the application of heat or whirlpool therapy may help torelieve muscle cramping. Exercise can help maintain musclestrength and function. Exercise, however, is recommended inmoderation. Drugs also may be used to help combat fatigue, but insome patients may worsen muscle cramps.
As the disease progresses, various assistive devices will helpa person with ALS/MND maintain their independence and ensurepersonal safety. For example, an ankle/foot brace can improvefunction and conserve energy, as well as help avoid injury. Whenneck, trunk and shoulder weakness makes walking or sittingdifficult, cervical collars, perhaps with an additional chest andhead strap, provide helpful support. A reclining chair ispreferable to a headrest to relieve fatigue of neck muscles.There are also numerous devices to assist in feeding, dressingand maintaining personal hygiene. Eventually, more substantialequipment, such as wheelchairs, scooters, lifts and hospital bedsmay be required.
It is important to know that speech therapists can help withspeech and swallowing difficulties as they develop. Also, drugtreatments can help patients who develop excessive saliva anddrooling. Family members of people with ALS/MND should beinstructed in the Heimlich maneuver to provide assistance in alife-threatening choking episode. Feeding tubes may be necessaryto maintain nutrition, as may breathing devices when the diseaseaffects the muscles of the chest. However, with these supportivedevices, there are physical, emotional and financialimplications, and their use should be discussed with a physicianwell in advance of when the need arises. Managing the symptoms isa process that is challenging for people with ALS/MND, theircaregivers, and their medical team.
Of all the disabilities that affect a person with MND, one ofthe most devastating and most common is the progressive loss ofthe ability to communicate. However, advances in computertechnology mean that persons with MND today have vital newelectronic communications options that can be adapted to theirindividual capabilities.
Progress through Research
Significant progress is being made in the study of ALS/MND.Although there is still no cure, recent clinical trials haveshown that some drugs affect nerve cell activity and may increasethe survival time for people with MND. Newly developed animalmodels of the genetic form of the disease, so-called transgenicALS mice, offer neurologic researchers the ability to testtherapies in mice. There is great hope that this and otherneuroscientific advances will lead to a cure in humans. Talk withyour doctor about being involved in future clinical trials orabout the drugs currently available for the treatment of thisdisease. Riluzole is a drug which can slow down the symtoms ofMND.
Exceptional Survivor
The brilliant British theoretical physicist Stephen W.Hawking, who is probably best known to the general public as theauthor of A Brief History of Time, is one of a very few peoplewho have survived for many years with amyotrophic lateralsclerosis (ALS/MND). Hawking, now 54, was diagnosed with MND in1963 when he was a 21-year-old graduate student at CambridgeUniversity in England.
Hawking's life demonstrates that MND impairs neither intellectnor sexual function. His work on the origin and nature of theuniverse has been, in the words of biographers Michael White andJohn Gribbin, ground-breaking and revolutionary. Hawking alsomarried and fathered three children after his diagnosis. In 1985,after suffering a windpipe blockage, Hawking had a breathingdevice surgically implanted in his throat. The surgery resultedin the loss of his voice. He now 'speaks' by using a voicesynthesizer connected to a computer that he operates by squeezinga switch in his hand.
In Stephen Hawking: A Life in Science, White and Gribbin writethat Hawking has a very strong personality and has "nevergiven in to the symptoms of MND more than he is physicallycompelled to."
For more information, or tocontribute to the fight against MND, please contact the MotorNeuron Disease Association (UK) on .. Only throughcontinued research can we hope for more treatments and a cure.
Back to MND Anglesey home page
Contents copyright / Cynnwyshawlfraint: Cyfrannwr/Contributor , Menter Mon , CyswlltCyf , 1998.
menternet