Amyotrophic Lateral Sclerosis (ALS) or Lou Gehrig’s Disease: Symptoms, Treatment

Amyotrophic Lateral Sclerosis also called as Lou Gehrig’s disease is a disease of the motor neurons, in fact it is the most common of the motor neuron diseases.¹ It is an incapacitating disease which causes weakness, which progresses rapidly, atrophy of the muscles, muscle fasciculations, dysphagia, dysarthria, and dyspnea etc.

• This disease results in weakness of the muscles and muscle atrophy encompassing the entire body due to degeneration of upper and lower motor neurons. Since the muscles are not able to function, they become weaker and get atrophied with complete failure to initiate voluntary movement. For an individual suffering from ALS, generally the cognitive function is not affected but there have been reports that certain percentage of individuals suffer from minor cognitive changes. The sensory and autonomic systems are relatively unaffected in ALS and as such there is no impairment with sense of sight, smell, touch, taste.
• The symptom onset of ALS is muscle weakness and atrophy. Other symptoms may also occur to include muscle twitching, cramping, stiffness of muscles affected; weakness of the muscles of the extremities either hands or the legs, speech impediment. Depending on the neurons that are affected first, the symptoms start in that part of the body. In about 80% of people suffering from ALS the first symptoms are in the limbs. The people in which the symptoms start in the legs, they may experience frequent tripping and stumbling. They may also have a footdrop, or dragging of the feet when ambulating. People in which the symptoms start in the hands, they face difficulty with fine motor skills like buttoning buttons, opening jars, etc. There is also a condition called monomelic amyotrophy in which only one limb is affected for a long time.
• There is another condition called bulbar onset ALS in which there is speech impediment and dysphagia in individuals.
• As time progresses, the people suffering from ALS start experiencing dysphagia, dysarthria, movement disorders. In order for a confirmatory diagnosis of ALS, a person should have evidence for both upper and lower motor neuron disorder.

• The progression of ALS is generally slower in individuals who are less than 40 years of age at the time of the onset of the disease and heir symptoms are mainly confined to one side of the body whereas it is very rapid in people who have the bulbar form of ALS
• As the disease reaches the advanced stage, people start having difficulty with swallowing making it very difficult for them to eat food. There are also chances of aspiration pneumonia. With the body not getting adequate nutrition, managing a stable weight becomes difficult. Some people also need feeding tube for nutrition. As the disease progresses, the muscles managing the respiratory system start to get weak resulting in breathing difficulties ultimately requiring mechanical ventilation. Even though mechanical ventilation decreases the problems for the affected individual, it does not stop the progression of the disease. Generally people pass away within three years of the onset of the disease.

• Genetic Aspect: There have been cases where this disease has been running in families. This is due to a defect in chromosome 21 which is responsible for around 25% of cases of genetic ALS.
• Other Aspects: If a person does not have a family history of ALS then there is no particular cause for the onset of this disease. There have been reports but without practical evidence that people involved with the armed forces or people participating in contact sports are more prone to have this disease.

• There is no test at present that can provide a confirmatory diagnosis of ALS but the presence of upper and lower motor neuron signs definitely suggest this disease. The diagnosis of ALS is generally suspected by the physician by observing the patient’s symptoms and conducting routine screenings to rule out other causes of the symptoms. Neurological examinations are conducted routinely to look for progression or worsening of symptoms.
• An MRI with FLAIR images are also obtained to see if it shows up any increased T2 signal in the internal capsule to confirm the diagnosis of ALS.
• As stated above a physician conducts a series of tests or screenings to rule out other causes of the symptoms and one of the tests is EMG and nerve conduction studies.
• If here is a doubt in the physician’s mind about whether the presenting symptoms are that of myopathy or ALS then he may also order a muscle biopsy.

• Slowing Progression of Disease: A drug called Rilutek is the only medication available currently that is effective in slowing down the progress of the disease and increase patient survival by quite a few months but people taking this medication must undergo periodic liver function tests to look for liver damage.
• Managing ALS: There are other treatments that are tailored to improve the quality of life of people suffering from ALS.
• Medication Treatment: Physicians generally prescribe medications to ease the symptoms like dysphagia, spasticity, muscle cramping etc. of the patients so that they can have a better quality if life.
• PT/OT/Speech Therapy: This used to improve muscle strength and rehabilitation of ALS sufferers. It also helps in making an individual function as independently as possible. As individuals with ALS develop dysarthria as the disease progresses, speech therapy becomes useful for them. Some people are also provided with augmentative communication devices.
• Feeding: Foods that are difficult to swallow need to be avoided for ALS patients. Feeding tube is also used to cut down the risk of aspiration
• Breathing Support: As stated above, as the disease progresses the muscles of the respiratory system become weak which makes it difficult for the individual to breathe on his own, hence mechanical ventilation is required.
• Supportive Care: Social networks and hospice care give the required help for the families of people suffering from ALS for them to cope up emotionally, financially, and medically.

About 50% of the people survive for close to three years but there is some percentage of individuals who survive for longer than that. The well-known physicist Dr. Stephen Hawking has survived ALS for more than 50 years and is still going strong.

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