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Amyotrophic Lateral Sclerosis (ALS) Lou Gehrig disease
Amyotrophic lateral sclerosis also called Lou Gehrig disease, is a disease of the brain and spinal cord (nervous system).
ALS causes a gradual loss of the nerve cells (neurons) that move voluntary muscles.
Amyotrophic Lateral Sclerosis is the most common adult-onset progressive degenerative disorder of the upper and lower motor neurons.
It produces a combination of muscular weakness, spasticity, and hyperreflexia (upper motor neurons) as well as flaccidity, atrophy, fasciculations, and hyporeflexia (lower motor neurons).
Onset is bulbar in 20% of patients and in a limb in 80%. The deficits are strictly motor without significant signs of sensory loss, dementia, cerebellar, or extrapyramidal disease.
Motor neurons controlling eye movements and sphincter function are usually spared as well.
The disease, which usually begins in the sixth decade of life with a range spanning most of adulthood, generally progresses to death within 3 to 5 years from aspiration or respiratory failure.
Voluntary muscles are the muscles you can control, such as muscles in the arms, legs, and lungs. In Amyotrophic Lateral Sclerosis, neuron loss causes the muscles to eventually stop working and waste away (atrophy).
Amyotrophic lateral sclerosis is a condition that gets worse over time (progressive) and eventually leads to death.
It can affect personality and memory and lead to a condition called fronto-temporal dementia. There is no cure for Amyotrophic Lateral Sclerosis, but treatment can help you live longer and improve your quality of life.
8 Interesting Facts of Amyotrophic Lateral Sclerosis
- Neurodegenerative disease in which patient loses upper and lower motor neurons
- Asymmetrical muscle weakness, fasciculations, and wasting
- Babinski sign
- Unexplained weight loss
- Difficulty walking
- Hyperreflexia
- Differentiated with history and physical examination
- Nerve conduction studies and electromyography help confirm the diagnosis
- EMG demonstrates visible and audible prolonged and disorganized motor units; nerve conduction velocity is typically within reference range
What are the causes of Amyotrophic Lateral Sclerosis?
The cause of most cases of Amyotrophic lateral sclerosis is not known. A small number of cases are passed from parent to child (inherited).
What increases the risk?
The following factors may make you more likely to develop this condition:
- Having a family history of Amyotrophic Lateral Sclerosis.
- Being male.
- Being 60–69 years old.
What are the symptoms of Amyotrophic Lateral Sclerosis?
Signs and symptoms of Amyotrophic Lateral Sclerosis start slowly. The first symptoms may include:
- Weakness in the arms or legs.
- Slurred speech.
- Muscle twitches (fasciculations).
- Trouble swallowing.
- Cramps.
- Involuntary muscle tightening (spams).
- Clumsiness.
- Stiffness.
Over time, signs and symptoms become more noticeable. These may include:
- Inability to walk.
- Muscle atrophy. Muscles may look smaller than normal.
- Slurred speech.
- Trouble breathing.
- Trouble swallowing.
- Inability to move arms or legs.
- Involuntary laughing or crying (pseudobulbar affect).
- Anxiety and depression.
- Weight loss.
- Changes in behavior.
- Memory problems (dementia).
- Excessive drooling (sialorrhea).
How is Amyotrophic Lateral Sclerosis diagnosed?
There is no test to diagnos ALS, but testing can help rule out other possible causes of your symptoms.
Amyotrophic Lateral Sclerosis diagnosis may be based on:
- Your symptoms. If your symptoms get worse over time and involve both the neurons in the brain (upper motor neurons) and neurons in the spinal cord (lower motor neurons), you may be diagnosed with ALS.
- A neurological exam in which your strength, reflexes, sensation, and coordination are tested.
- Nerve conduction studies and electromyogram. These are tests that record muscle activity and check how well your nerves send signals.
- Genetic testing, if you have a family history of ALS.
- Imaging studies of the brain and spinal cord, such as an MRI or CT scan.
- Blood tests.
What genetic abnormalities are associated with Amyotrophic Lateral Sclerosis?
The exact cause of ALS is unknown.
Approximately 8% to 10% of patients have a family history of the disease, usually in an autosomal dominant pattern. Multiple genes have now been associated with familial as well as sporadic Amyotrophic Lateral Sclerosis.
The first discovered genetic defect, superoxide dismutase type 1 (SOD1), accounts for 15% to 20% of familial Amyotrophic Lateral Sclerosis and was the basis for the development of the drug riluzole used in treatment.
Most importantly, a hexanucleotide repeat expansion (GGGGCC) in the noncoding region of chromosome 9 open reading frame 72 (C9orf72) accounts for 40% to 50% of familial ALS as well as likely many sporadic cases.
Other important genes include transactive response DNA binding protein 43 (TARDBP) and fused in sarcoma (FUS), which both account for 5% of familial ALS. C9orf72 and TARDBP mutations clinically overlap with frontotemporal dementia syndromes as well.
How is Amyotrophic Lateral Sclerosis treated?
There is no cure for ALS, but treatment can slow down the progression of the disease and improve your quality of life. You may work with a team of health care providers that includes therapists, nutrition specialists, and social workers. Treatment may include:
- Medicines
that:
- Slow the progression of the disease.
- Reduce muscle cramps or spasms.
- Relieve anxiety, depression, or pseudobulbar affect.
- Therapy
to improve quality of life, such as:
- Physical therapy exercises to help keep your muscles flexible and provide devices or braces to prevent falls.
- Occupational therapy to help with everyday activities like eating and dressing.
- Speech therapy to help with communication and to make sure you can swallow safely.
- Devices
to help you breathe more easily. These may include:
- Intermittent positive pressure ventilation. This may involve wearing a mask (bi-level positive airway pressure device, BiPAP) at night to help you breathe while sleeping, or during periods of shortness of breath during the day.
- A tracheostomy tube (trach tube). This is a tube attached to a surgical opening in the windpipe (trachea) in the neck. The trach tube connects to a breathing machine (ventilator) that provides constant breathing support.
- A device to help with coughing to clear the throat and lungs (cough assist device).
- Devices to help you move around, such as a cane, walker, braces, power wheelchairs, or ramps in your home.
- A feeding tube to supplement your diet and prevent weight loss.
What is the differential diagnosis of ALS?
The most common condition misdiagnosed as ALS is multifocal motor neuropathy.
Other diagnoses to consider include
- cervical cord/foramen magnum lesions (tumor, syringomyelia, syringobulbia, spondylosis),
- tropical or hereditary paraparesis,
- copper or vitamin B12 myelopathy,
- multiple sclerosis,
- spinal muscular atrophy,
- spinal bulbar muscular atrophy,
- myasthenia gravis,
- thyrotoxicosis,
- hyperparathyroidism,
- paraneoplastic conditions, and
- hexosaminidase A deficiency
Follow these instructions at home:
Working with your health care providers
- Work with your team of health care providers to make a plan for home care to meet your needs. Your needs may change over time.
- If you have symptoms of anxiety or depression, work with a mental health care provider.
- In some cases, your health care provider may recommend working with a social worker to make sure you have the support you need at home.
Activity
- Exercise
daily, if you are able. Work with a physical therapist to make an exercise
program that includes:
- Stretching and range-of-motion exercises.
- Aerobic exercises, like swimming or walking. These exercises can help strengthen muscles that are not affected by ALS.
- Make your home safe and easy for you to get around, and take steps to prevent falls.
- Use devices to help you move around as told by your health care provider.
General instructions
- Make sure you have a strong support system at home.
- Take over-the-counter and prescription medicines only as told by your health care provider.
- Do not use any products that contain nicotine or tobacco, such as cigarettes and e-cigarettes. If you need help quitting, ask your health care provider.
- Work with a diet and nutrition specialist (registered dietitian) to maintain a healthy diet.
- Have a safety plan for emergencies, such as a safety alert system to get help quickly.
- Keep all follow-up visits as told by your health care provider. This is important.
Where to find more information
- ALS Association: www.alsa.org
- Muscular Dystrophy Association: www.mda.org
Contact a health care provider if:
- You are unable to care for yourself at home.
- You have symptoms of anxiety or depression.
Get help right away if:
- You have a fever.
- You cannot swallow food or liquids.
- You choke on foods or liquids.
- You have trouble breathing.
Summary
- Amyotrophic Lateral Sclerosis is a disease of the nerves that control voluntary muscles. This condition leads to weakness in arms and legs, slurred speech, problems swallowing, and difficulty breathing.
- ALS is diagnosed through a a review of your symptoms, a neurological exam, imaging tests and other tests.
- Treatment may include a combination of medications that slow the disease and help with symptoms of the disease. Physical, occupational and speech therapy may be recommended to help with physical changes. Devices may be needed to help with breathing and feeding.
- ALS patients often need ongoing support and care at home. Ask your health care provider what resources may be needed as your condition progresses.
