ALS, also known as Lou Gehrig’s disease, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. It causes loss of muscle control, eventually leading to paralysis and death. There is currently no cure for ALS, but treatments aim to slow progression and manage symptoms. Surgery may potentially play a role in helping treat certain symptoms of ALS.
What is ALS?
ALS stands for amyotrophic lateral sclerosis. It is a motor neuron disease that progressively damages nerve cells called motor neurons in the brain and spinal cord. Motor neurons control voluntary muscle movement. As motor neurons degenerate, they can no longer send impulses to muscles. This leads to muscle weakness, twitching, and eventually paralysis. ALS also affects control of speech, swallowing, and breathing.
The average life expectancy after diagnosis is 3-5 years. About 10% of ALS patients survive for 10 years or more. Stephen Hawking lived with ALS for over 50 years, which is highly unusual. The progression rate of ALS varies significantly between individuals. Initially symptoms may be minor or localized, but they inevitably worsen over time. Currently there is no cure, although medications and therapies can help manage symptoms and slow progression.
What Causes ALS?
In most ALS cases, the exact cause is unknown. Potential factors include:
– Genetics – About 5-10% of cases are directly inherited. Mutations in genes like SOD1, TARDBP, FUS, and C9ORF72 can cause familial ALS.
– Environmental triggers – Exposure to toxins, heavy metals, pesticides, smoking, and trauma may increase ALS risk.
– Mitochondrial dysfunction – Impaired energy production in cells.
– Glutamate toxicity – Excess glutamate damages motor neurons.
– Oxidative stress – Imbalance between free radicals and antioxidants.
– Protein misfolding – Clumps of proteins damage neurons.
– Immune system overactivation – Inflammation and autoimmunity.
– Axonal transport defects – Disruption of cellular transport systems.
The combination of genetic and environmental factors likely interact to trigger motor neuron damage in ALS. Ongoing research aims to better understand these disease mechanisms.
ALS Symptoms
Initial ALS symptoms depend on which motor neurons are affected first. They may include:
– Muscle weakness or stiff muscles in hands, arms, legs or face
– Twitching (fasciculations)
– Muscle cramps and spasms
– Difficulty speaking or slurred speech
– Trouble swallowing (dysphagia)
As ALS progresses, symptoms get worse and may include:
– Muscle loss and atrophy
– Muscle paralysis
– Difficulty breathing
– Shortness of breath
– Difficulty coughing
– Muscle fatigue
– Emotional lability (frequent laughing or crying)
– Cognitive or behavioral changes
– Pain and discomfort
– Sleep problems
– Involuntary passing of urine or feces
How is ALS Diagnosed?
ALS is challenging to diagnose in early stages because symptoms mimic other conditions. Diagnosis involves:
– Medical history – Discussing symptoms and progression.
– Physical exam – Assessing muscle, nerve and brain function.
– Electromyography – Measures electrical activity of muscles and nerves. Can detect abnormal functioning.
– Nerve conduction study – Assesses response of nerves to stimulation.
– MRI – Scans brain and spinal cord to check for other possible conditions.
– Blood and urine tests – Help rule out other causes.
– Muscle or nerve biopsy – Extracts a small tissue sample to check for signs of disease.
Over the course of evaluation, the doctor looks for progressive upper and lower motor neuron damage that cannot be attributed to other causes.
Can Surgery Help with ALS Symptoms?
There is currently no surgical cure for ALS. However, certain procedures may help manage troublesome symptoms and improve quality of life. Potential surgical options include:
Feeding Tube Placement
Many ALS patients have difficulty swallowing as muscles weaken. A feeding tube allows liquid nutrition, medications, and fluids to be delivered directly to the stomach or small intestine. Tubes like PEG and RIG prevent malnutrition, dehydration, and aspiration pneumonia caused by swallowing problems. Timing for tube placement depends on the patient’s needs.
Diaphragm Pacing System
Up to 75% of ALS patients experience respiratory impairment from diaphragm muscle weakness. A diaphragm pacing system (DPS) electrically stimulates the diaphragm muscles to contract, assisting with breathing. The electrodes and battery are surgically implanted. DPS may help some patients avoid tracheostomy.
Tracheostomy
As breathing muscles weaken, a tracheostomy provides an artificial airway to deliver ventilator assistance. During this surgery, an opening is made in the neck and a tracheostomy tube is inserted. Air then bypasses obstruction in the nose, mouth, and throat. Tracheostomy facilitates use of mechanical ventilation as breathing declines.
Gastrostomy
Some ALS patients have uncontrolled drooling of saliva (sialorrhea) due to weakened face and mouth muscles. A gastrostomy tube can be placed to divert excess saliva from the mouth to the stomach. This prevents choking and aspiration. Medications may also help dry secretions.
| Surgery | Purpose |
|---|---|
| Feeding Tube | Provides nutrition support and medication delivery for swallowing impairment. |
| Diaphragm Pacing | Assists breathing by stimulating diaphragm contraction. |
| Tracheostomy | Artificial airway to enable mechanical ventilation. |
| Gastrostomy | Diverts excess saliva to prevent aspiration. |
Can Surgery Slow ALS Progression?
No surgical procedures have been proven to slow the course of ALS itself. However, a few experimental procedures aim to potentially stabilize ALS patients. More research is needed to evaluate their long-term outcomes.
Nerve Decompression
Some research indicates compressed or pinched nerves may contribute to motor neuron damage in ALS. Decompressive surgery aims to relieve this pressure. Procedures like cervical laminectomy or lumbosacral laminectomy create more space around the spinal cord and nerves. However, evidence has not conclusively shown nerve decompression alters ALS progression.
Stem Cell Transplantation
Stem cell therapy aims to repair damaged motor neurons using injected stem cells. Different stem cell types like mesenchymal, neural, and embryonic stem cells have been studied. Stem cells may help nourish existing motor neurons or develop into new neurons. Early clinical trials using various stem cell injections have had limited success. More studies are underway to evaluate safety and efficacy.
Gene Therapy
For familial ALS cases caused by genetic mutations, delivering normal genes to motor neurons may potentially slow disease. In preclinical studies, using viruses as gene vectors slowed progression in ALS animal models. Human trials of gene therapy are now in early phases. It remains to be seen if gene therapy could become an effective ALS treatment.
Can Physical Therapy Help After ALS Surgery?
Physical therapy is very beneficial after ALS-related surgeries to help maintain mobility and prevent complications like pneumonia, blood clots, and joint contractions. Recommended physical therapy may include:
– Gentle range of motion exercises to improve joint mobility.
– Muscle strengthening training using weights or resistance bands.
– Aerobic activity like walking with assistance to improve endurance.
– Stretching and positioning to prevent muscle shortening.
– Exercises to strengthen breathing muscles.
– Training on using mobility aids like wheelchairs safely.
– Swallowing exercises if applicable.
– Techniques to clear mucus and expand lungs.
Physical therapists also educate ALS patients and caregivers on performing safe transfers, proper body mechanics, and fall prevention strategies. Regular physical therapy helps optimize function and quality of life after surgery.
Multidisciplinary ALS Care
In addition to surgery and physical therapy, ALS patients benefit from multidisciplinary care involving:
– Neurologists – Diagnose and treat ALS. Provide medications to slow progression. Monitor nerve and muscle function.
– Pulmonologists – Manage respiratory issues and advise on ventilator needs.
– Gastroenterologists – Address nutritional support, swallowing dysfunction, and digestion.
– Speech therapists – Help maintain communication and treat swallowing impairment.
– Occupational therapists – Recommend adaptive devices and energy conservation techniques.
– Mental health providers – Support emotional health and coping strategies.
– Palliative care specialists – Control pain and maximize comfort.
– Social workers – Offer counseling on finances, caregiving, and community resources.
Multidisciplinary care optimizes quality of life and symptom management throughout the ALS disease course.
Conclusion
While there is currently no surgical cure for ALS, certain procedures can help manage symptoms like breathing, swallowing, and nutrition problems. Surgeries like feeding tube placement, diaphragm pacing systems, tracheostomy, and gastrostomy may support quality of life as ALS progresses. Experimental surgeries like nerve decompression, stem cell therapy, and gene therapy are also being explored to potentially slow ALS progression, but more research is needed. Physical therapy is very beneficial after surgery to maintain mobility and lung function. Multidisciplinary medical care also provides critical support. Surgery can play an important role in the comprehensive care of ALS patients. Ongoing advances in ALS research provide hope for new treatment options.