ALS, also known as motor neuron disease, is a disease affecting nerve cells in the brain and spinal cord that control muscles and voluntary muscle movements. ALS is characterized by the progressive degeneration of upper motor neurons in the brain and lower motor neurons in the spinal cord. As the motor neurons no longer send signals to the muscles, the muscles begin to wear out, resulting in muscle weakness.

While the underlying cause of ALS is unknown, the disease is passed down from parents in 5 to 10% of cases. ALS typically manifests with muscle pain and weakness in one limb or slurred speech. As the disease progresses, it becomes more difficult to maintain the functions necessary for movement, speaking, eating, and breathing, and muscle control is lost. Life expectancy varies from diagnosis to diagnosis.

While the average survival time for ALS is known to be 2-5 years, some ALS patients live 10 years or longer. Worldwide, approximately 1 to 2 people in every 100,000 are diagnosed with ALS each year. ALS is more common in men than in women.

ALS is generally seen in people between the ages of 40 and 60, and the disease rarely begins before the age of 30. In people over 65, ALS is equally prevalent in men and women.

What are the Classifications of ALS Disease?

The causes of ALS are divided into two categories: familial and sporadic (non-hereditary). 90-95% of ALS cases are sporadic, meaning there is no genetic basis. The cause of ALS in sporadic, non-hereditary cases is still unknown.

Types of ALS:

Classical ALS

• It is a distinctive, progressive neurological disease characterized by the deterioration of upper and lower motor neurons. Classic ALS accounts for more than two-thirds of all patients presenting with ALS.

Primary Lateral Sclerosis

• It is a progressive neurological disease characterized by the deterioration of upper motor nerve cells (neurons). If lower motor neurons remain unaffected and unresponsive within two years of the disease, the disease generally remains a pure upper motor neuron disease. Primary Lateral Sclerosis is the rarest of all types of ALS.

Progressive Bulbar Palsy (PBP)

• It is a condition characterized by the deterioration of a lower motor neuron, resulting in difficulty speaking, chewing, and swallowing. This dysfunction represents approximately 25% of all patients with ALS.

Progressive Muscular Atrophy (PMA)

• It is a progressive neurological disease in which lower motor neurons deteriorate, resulting in dysfunction. If upper motor neurons are not affected within two years, the disease is generally considered simple lower motor neuron disease.

Familial ALS

• It is a progressive neurological disease that affects many members of the same family. It represents 5% to 10% of patients with ALS.

What are the risk factors for ALS disease?

Established risk factors for ALS include:

• Family history: In 5% to 10% of people diagnosed with ALS, the disease is inherited from parents through genes.
• Age: The risk of ALS increases with age, and the disease is most commonly detected in people between the ages of 40 and 60.
• Gender: Before age 65, men are slightly more likely than women to develop ALS. This gender difference disappears after age 65, and the incidence becomes equal.
• Genetics: Different mutations in ALS can cause different reactions. Any change in a normal protein can be harmful to the cell and lead to disease. The most common gene mutations in familial ALS patients are C9orf72, SOD1, TDP43, FUS, and UBQLN2.

The following environmental factors may also trigger ALS:

• Smoking: As with many diseases, it is an environmental risk factor for ALS. The risk is particularly high among postmenopausal women.
• Environmental toxin exposure: Although some studies have linked exposure to lead or other similar substances in the workplace or at home with ALS, a close relationship between past exposure to heavy metals and the risk of ALS has not been found.
• Occupational status: Studies and research have determined that individuals serving in the military are at higher risk of ALS. The factors that contribute to the development of ALS remain unclear. Exposure to certain metals and chemicals, traumatic injuries, viral infections, and intense exertion are thought to be possible triggers for the development of ALS.

What are the symptoms of ALS?

People with ALS experience loss of muscle strength and physical coordination. As the disease progresses, routine tasks such as climbing stairs, getting up from a chair, or swallowing food may become impossible. Loss of muscle strength may begin in specific body parts, such as the hands and arms. As the disease progresses, problems begin to affect more muscle groups. ALS does not affect the senses of sight, smell, taste, or hearing. Dementia and memory problems can rarely occur in ALS patients.

The symptoms of ALS are not the same for every patient; they vary depending on the neurons affected.

Symptoms of ALS may include:

• Muscle cramps and twitching are observed in the arms, shoulders, and tongue.
• Muscle weakness
• Loss of strength in the legs, feet and ankles
• Difficulty in normal daily activities such as walking, running, etc.
• Frequent tripping and falling, lack of coordination
• Sudden and uncontrollable crying and laughing
• Weakness in the hand or inability to do work
• Difficulty in writing
• Difficulty speaking and swallowing
• Cognitive and behavioral changes related to the functioning of intelligence
• Difficulty lifting heavy objects, frequently dropping things in hand
• Physical weakness and fatigue
• Weight loss
• Difficulty running and walking
• Shortness of breath
• Paralysis

As the disease progresses, ALS can cause the following complications:

Respiratory Problems

• The most common cause of death in patients with ALS is respiratory failure. ALS patients experiencing breathing difficulties may need a ventilator to help them breathe more easily and provide relief at night. For example, devices that provide positive airway pressure (CPAP) or bilevel positive airway pressure (BIPAP) may be recommended to help ALS patients breathe more easily at night.
• Some people with advanced ALS have a tracheostomy, a surgically created opening in the front of the neck that leads to the windpipe, to allow better airflow into the lungs and to use a ventilator.

Speech problems

• Many patients with ALS have speech difficulties and have assistive devices to help them communicate more clearly.

Eating problems

• People with ALS who progress to advanced disease may develop dehydration due to difficulty swallowing. They are also at increased risk of food, liquid, or saliva getting into the lungs from difficulty swallowing, which can lead to pneumonia. A feeding tube can reduce these risks and ensure proper hydration and nutrition.

Dementia

• Memory loss and dementia are rarely observed in patients with ALS. People with ALS may be diagnosed with a type of dementia called frontotemporal dementia.

How Is ALS Diagnosed?

To accurately diagnose ALS, the individual's medical history is first evaluated and a physical/neurological examination is performed. Some laboratory and radiological tests used to diagnose ALS include:

• Electromyogram (EMG)
• Blood tests
• Spinal fluid test
• Magnetic Resonance Imaging (MRI) These tests can be performed at Private Ankara Magnet Hospital upon the request of our physicians.

What are the ALS Treatment Methods?

Currently, there is no definitive treatment system for ALS disease; the treatment methods used aim to alleviate the symptoms of the person, provide social and emotional support, and slow the progression of the disease.

Treatment options include:

• Necessary medications are used to relieve painful muscle cramps, excessive drooling, and other developing symptoms.
• Physical therapy options are used to maintain mobility and relieve the discomfort of muscle stiffness, cramps, and fluid retention.
• To encourage good nutrition and reduce complaints of difficulty swallowing, a nutrition plan determined by our dieticians is implemented at Private Ankara Magnet Hospital.
• It's important to maintain verbal communication as much as possible to maintain speech skills; this requires speech therapy and communication training. Communication training also includes non-verbal techniques.
• Devices such as splints, corrective braces, grab bars, access devices, etc. are used to assist with daily activities such as dressing, eating, toileting, and bathing.
• Special equipment such as wheelchairs, electric beds, etc. can be provided to maximize functional independence.

An ALS patient needs to work with a multidisciplinary team during treatment. Medical personnel who can be included in this team include neurologists and physical therapists;

Neurologist: The primary physician responsible for diagnosing, evaluating, and managing the condition of ALS patients. At Ankara Private Magnet Hospital, our experienced neurologists assist our patients in the diagnosis and prognosis of ALS.

Physical therapies:  We recommend low-impact exercise to maintain muscle strength and joint range of motion for as long as possible. The expert Physical Therapy and Rehabilitation department at Özel Magnet Hospital provides comprehensive support to our patients.

Stretching exercises

For people with ALS, stretching exercises are a supportive program that can help reduce the frequency or intensity of muscle cramps. These exercises should be performed regularly, daily, to prevent pain and stiffness.

Range of motion exercises (ROM)

The purpose of these exercises is to ensure that the joints remain within their normal range of motion and to prevent pain, edema and restriction.

Strengthening exercises

Strengthening exercises are not recommended for people with ALS. This means that exercising with weights will not strengthen weakened muscles and may cause further muscle weakness.

At Private Ankara Magnet Hospital, our expert physiotherapists' regular physiotherapy program aims to preserve existing muscle strength and joint range of motion required for movement for as long as possible, thus preserving the desired cardiovascular performance.