Amyotrophic lateral sclerosis

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Are you suffering from a progressive weakness in the limbs and muscular cramps in various body regions, such as the shoulders? The underlying condition could be Amyotrophic lateral sclerosis (ALS). Read and find out all about this disease, including its possible causes, symptoms, diagnosis, treatment and complications.

Amyotrophic lateral sclerosis Definition

It is an acute neurological disorder that results in muscular weakness and disability of sufferers. In worse cases, it may even lead to the death of affected individuals.

The disorder is also referred to as Lou Gehrig’s Disease, named after Lou Gehrig – the popular baseball player who was detected with the condition in 1939. In the U.S, ALS is sometimes also called Motor Neuron Disease (MND) and vice-versa.

Amyotrophic lateral sclerosis ICD9 Code

The ICD9 Code of the disorder is 335.20.

Amyotrophic lateral sclerosis Incidence

The condition affects 1-3 people out of every 100,000 individuals of the global population.

Amyotrophic lateral sclerosis Causes

Around 5-10% cases of the syndrome are believed to be inherited. But in 90 to 95% cases of the disorder, doctors are unsure about the underlying cause. Such cases are thought to arise in a random manner.

Medical researchers have mentioned several possible causes for ALS and still studying them. These include:

Genetic mutation

Inherited types of ALS can occur as a result of various genetic mutations. The inherited types, however, appear almost identical to the forms that are non-inherited.

Defective immune response

In some individuals, the immune system gets impaired and begins attacking the normal cells of the body mistaking them as foreign objects. Scientists have speculated that erroneous response of natural immunity could trigger the underlying condition for ALS.

Chemical imbalance

ALS sufferers typically suffer from an excessive level of glutamate (a chemical messenger in the human brain) around the nerve cells present in the spinal fluid. High levels of this chemical are known to have toxic effects on certain nerve cells.

Mishandled proteins

According to some evidence, mishandled proteins inside the nerve cells can results in a slow buildup of abnormal types of these proteins within the cells. This can ultimately result in the death of the nerve cells.

Amyotrophic lateral sclerosis Symptoms

The disorder often begins in the extremities, such as the hands, limbs or feet and then spread to the other regions of the body. Its early signs and symptoms include:

  • Weakness in the ankles, feet or legs
  • Slurred speech
  • Difficulties in swallowing
  • Weakness in hands
  • Clumsiness
  • Muscular cramps and twitching in the shoulders, arms or tongue
  • Problems in lifting the front area of the foot and the toes (a condition referred to as Foot drop)

In the later stages, the muscles get progressively weaker and eventually become paralyzed. It ultimately affects actions like speaking, swallowing and even breathing.

Amyotrophic lateral sclerosis Diagnosis

The diagnosis of the disease initially involves a physical examination. Doctors examine patients and ask them questions about their medical history and the symptoms that they have been experiencing. A physical examination is then conducted, which aim to detect one or more of the following physical problems:

  • Loss of gag reflex
  • Abnormal reflexes
  • Weakness, often arising in one region
  • Elevated reflexes at the joints
  • Stiff or clumsy walk
  • Muscle tremors
  • Spasms
  • Muscle twitching
  • Loss of muscle tissue
  • Twitching of the tongue (often seen)
  • Difficulty in controlling crying or laughing (sometimes referred to as “Emotional incontinence”)

It is difficult to diagnose this disorder as its symptoms are similar to that of many other neurological conditions. In order to rule out the presence of such similar conditions, the following tests can be conducted:

  • MRI (Magnetic Resonance Imaging)
  • Blood and Urine tests
  • Electromyography
  • Cervical spine CT scan
  • Muscle biopsy
  • Genetic testing
  • Breathing test, to find out whether the lung muscles have been affected
  • Swallowing studies
  • Nerve conduction study
  • Spinal tap (Lumbar puncture)

Amyotrophic lateral sclerosis Differential Diagnosis

The differential diagnosis for ALS involves telling its symptoms apart from other conditions like:

  • Brainstem Gliomas
  • Central Cord Syndrome
  • Sarcoidosis and Neuropathy
  • Primary Lateral Sclerosis
  • Spinal Muscular Atrophy
  • Posttraumatic Syringomyelia
  • Lyme Disease
  • Multiple Sclerosis
  • Dermatomyositis/Polymyositis
  • Lambert-Eaton Myasthenic Syndrome
  • Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Physicians should make sure that the symotoms experienced by sufferers are those of ALS and not of any of the disorders mentioned above.

Amyotrophic lateral sclerosis Treatment

Unfortunately, the symptoms of ALS cannot be reversed. Treatment for this disorder primarily aims at slowing down the rate of progression of the symptoms of this disorder as well as making patients more independent and comfortable.

The treatment measures include:

Medicines

The FDA first approved the medicine Riluzole (Rilutek) for retarding the progression of ALS symptoms. The medication appears to slow down the progression in certain sufferers. It possibly works by lowering the levels of the chemical messenger Glutamate. Medications may also be prescribed to alleviate the following discomforting symptoms arising due to ALS:

  • Depression
  • Pain
  • Excessive drooling
  • Constipation
  • Fatigue
  • Muscle cramps
  • Excessive phlegm

Therapy

Therapeutic measures include:

Speech therapy

It involves teaching adaptive techniques to patients to make them speak in a way that is more comprehensible. Sufferers are trained in alternative modes of communication to help them express themselves more clearly.

Occupational therapy

It includes the use of braces, wheelchair or walker to help sufferers move about in an easier manner. ALS impairs the locomotion of sufferers to a great extent. Naturally, Occupational therapy is quite assistive in combating such problems.

Physical therapy

With the progression of the disease, the strength and ability of ALS patients becomes more and more affected. Physical therapists can improve range of motion, muscular strength and cardiovascular fitness of sufferers as much as possible. Regular workouts can also promote a sense of well-being in ALS patients.

Amyotrophic lateral sclerosis Risk Factors

The risk factors for the condition include:

Age

The disorder is most common in individuals aged between 40 and 60 years.

Heredity

Up to 10% people suffering from ALS inherit the disorder from their parents. Children born to individuals with this form of ALS have a 50% risk of developing it.

Sex

Men are slightly at greater risk of developing the condition than women, before 65 years of age. However, the sexual preference tends to disappear after 70 years of age.

In people who are genetically predisposed to this disorder, the condition is triggered by some environmental factors. These include:

Lead exposure

As per some evidence, people who are exposed to lead in their workplace are at greater risk of developing ALS.

Smoking

Cigarette smoking appears to elevate the risk of individuals two times more than non-smokers. The more a person has been a smoker, the greater is his/her risk of developing the disease. However, quitting smoking has been found to lower the risk of development of the condition and one-time smokers become as much nearly as much susceptible to the disease as non-smokers.

Military service

According to recent studies, individuals who have served in the military are at a higher risk of developing the condition. It is not known what exactly brings about this disease. However, traumatic injuries, exposure to certain chemicals, intense exertion and viral infections are supposed to be some of the main causes for ALS.

Amyotrophic lateral sclerosis Complications

Individuals having ALS suffer from one or more of the complications, mentioned as under:

Respiratory difficulties

ALS sufferers experience an inability to breathe due to progressive paralysis of their muscles. Respiratory failure is the most common cause of death in individuals affected with ALS with most patients dying 3-5 years after the symptoms begin to manifest.

The problem can be countered with the aid of certain assistive devices. These are to be worn only at night and resemble equipments that are used by sleep apnea patients, such as Continuous Positive Airway Pressure (CPAP) masks. In the advanced stages of the disease, some patients may choose to undergo an operative procedure known as Tracheostomy. The technique involves surgically creating a hole at the front region of the neck that leads to the trachea or windpipe. It enables the full-time use of an apparatus known as respirator which inflates as well as deflates the lungs of sufferers.

Dementia

Some ALS patients suffer from memory problems and also difficulties in decision-making. Some affected individuals are ultimately diagnosed with a type of dementia known as “Frontotemporal dementia.”

Eating difficulties

As ALS affects the muscles that control swallowing, suffering individuals develop dehydration and malnutrition. They also stand at a greater risk of aspirating liquids, secretions or food directly into their lungs, which can give rise to Pneumonia. Such risks can be reduced with the aid of a feeding tube.

Amyotrophic lateral sclerosis Prognosis

In the course of time, individuals suffering from ALS lose the ability to perform activities normally and even look after themselves. Often, death occurs within 3-5 years after the diagnosis of the disorder. Around 1 out of 4 patients live for more than 5 years after being detected with the disorder. As mental function is not affected by the condition in any way, patients need emotional support to counter the psychological trauma that the condition puts them in. Those affected by the disorder, and their family members, can get in touch with groups such as ALS Association to receive support, information and assistance regarding the condition.

Amyotrophic lateral sclerosis Prevention

The disease cannot be prevented. If you have a family history of ALS, get in touch with a genetic counselor to know your chances of developing the condition. You may also plan your lifestyle and long-term plans in the appropriate way to counter the disorder.

If you suspect yourself, or a dear one, to be suffering from this disorder, get in touch with a medical care provider on an immediate basis and go through the tests required to diagnose this condition. Medical help is also necessary in cases where there is a family history of the condition. On detection, treatment should be commenced as early as possible. In the absence of timely and proper cure, the disease can worsen and cause numerous difficulties and even cause death of sufferers.

References:

http://www.mayoclinic.com/health/amyotrophic-lateral-sclerosis/DS00359

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001708/

http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis

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