ALS is the most severe disease in the group of degenerative diseases affecting the motor neurons. The disease is rare and incurable. It is also known as "Lou Gehrig Disease" after an American baseball player who suffered from the disease in the thirties. In England, it is known as motor neuron disease (MND), and in France as Charcot's disease.
ALS affects the motor nerve cells (motor neurons), through which the brain oversee the operation of most voluntary muscles in the body. Nerve cells are destroyed and as a result they can not activate the muscles, causing their weakness to complete paralysis. The disease can damage the muscles responsible for operation of the limbs, swallowing, speech and breathing, not in any particular order. There is usually no harm to cognitive performance.
A small portion of ALS cases are hereditary, when a specific family has one or more cases of the disease.
Symptoms
The first symptoms of the disease are usually mild and non-specific, which sometimes causing a delay in diagnosing the disease. The most important symptoms include muscle weakness in the extremities, difficulty speaking and difficulty breathing and swallowing.
The order of onset of symptoms and their rate of progression in various muscles can vary from patient to patient, but most patients initially experience muscle weakness that causes falls, dropping things, and fatigue.
With disease progression and spread of the paralysis, most patients will have impairments in speech, swallowing, chewing and breathing.
Because the disease affects only the motor nerves, sensory nerves are not affected and there is no damage to the senses of sight, hearing, touch, taste and smell.
Most patients have no cognitive impairment and remain lucid throughout the disease.
Incidence
Incidence of the disease is 1-2:100,000. It is estimated that there are currently between 600-700 ALS patients living in Israel.
The common age of onset is 45-65, though there are younger and older patients than this range. 5% - 10% of cases are dominantly inherited disease.
Diagnosis
Suspicion of ALS arises when a person complains of muscle weakness that has intensified with time and is expressed by a decline in limb functioning and in swallowing and breathing systems.
A neurological examination plays a crucial role in diagnosing disease. The neurologist will look for evidence that the motor nerves do not function properly.
Usually an EMG test is arranged, which examines the functioning of the motor nerves. The test is done by inserting a needle to the weak muscles and recording their activity.
Most patients need further tests to rule out other reasons that can cause muscle weakness. These tests may be blood tests, MRI, and puncture to test the cerebrospinal fluid.
Treatment
Riluzole/Rilutek is the only drug that has a proven effect in slowing disease progression by several months. Usually this drug has no significant side effects.
Appropriate nutrition and physical activity (in the early stages of the disease) were found to be effective in maintaining the patient's condition. There are cases where gastrostomy is necessary, direct feeding to the stomach that complements/replaces regular nutrition.
Usually in the course of the disease there is a need for respiratory support. Most patients can use non-invasive respiratory devices until the advanced stages of the disease.
In ALS disease, supporting treatment plays a central role in maintaining the patient's quality of life. Supporting treatment includes physiotherapy, speech and swallowing therapy, respiratory therapy and mental/emotionalsupport. There are many treatments for the relief of symptoms such as muscle cramps, shortness of breath, accumulation of saliva, pain, lack of sleep, increased laughter or tears and psychological problems.
There are many types of accessories and equipment that can bring relief to patient and allow movement and communication.
Hadassah Medical Center in Ein Kerem operates an ALS Clinic led by Dr. Marc Gotkine.
The ALS Clinic operates according to the "One Stop Shop" model customary in the world. According to this model, the clinic aggregates all the medical and paramedical services the patients need under one roof, so when they arrive at the clinic they will be able to meet all the relevant experts at one time.
The number of experts from various disciplines have already been working together for many years to provide multidisciplinary treatment. Experts that are included in the clinic are:
Dr. Marc Gotkine, a neurologist expert in charge of the ALS Clinic. Dr. Gotkine is a specialist in neurology, who specifically specializes in ALS and neurological diseases that affect muscle strength. He is also an ALS researcher at the clinical, genetic and laboratory level.
The clinic nurse, Ms. Ahuvah Lurie (Phone: 050-7874692), who has great experience in treating the population of patients suffering from complex and severe neurological diseases including ALS. Her role includes coordination between the various experts, providing education to patients and their families in the context of nursing care at home, giving general support to patients and families, nursing assessment of patients, giving focused nursing care during the time of clinic when needed.
Respiratory and lung function specialist: Dr Liran Levy and the staff of the ICU, collaborating with the Department of Neurology in the treatment of patients suffering from neurological disorders that harm their ventilation. This monitoring will allow the diagnosis of ventilation disorders in the early stages, and so can offer appropriate treatment and suitable follow up. The equipment used to test respiratory function allows convenient testing in the clinic and provides respiratory support in various forms (such as breathing with positive pressure, negative pressure and bedside tracheostomy) that will allow customization of respiratory treatment for each patient.
Experts in the field of gastroenterology
- "PEG" nurse working in cooperation with the ALS Clinic to coordinate inserting PEG easily, and appropriate follow-up after treatment.
- Dietitian for early diagnosis of malnutrition as a problem.
- Physiotherapist to provide training exercises to improve function and reduce pain.
- Social worker who specifically coordinates ALS patients and their families from all over the country.