The diagnosis of ALS is only made after an intensive physical-neurological examination. In this case, the apparative "additional" diagnostics serves to exclude other diseases, which could be confused with ALS. These precise examinations are especially important because other forms of therapy may be used for ALS-like conditions.
A causal therapy with standstill of the symptomatology or cure of ALS is not available worldwide; at present this is neither possible in classical orthodox medicine nor by alternative therapy methods. However, there are intensive research activities with the aim of developing effective therapies.
ALS is nevertheless a treatable disease. A distinction is made between neuroprotective therapy, which is intended to slow down the disease, and palliative medical therapy with symptom control, i.e. the treatment of ALS-related complaints and disabilities and the improvement or preservation of the quality of life.
Electrophysiological examinations are important, for example, electromyography (EMG) and electroneurography (ENG). This can lead to diseases of the peripheral nerves (motor neuropathies). The muscular system can be proven or excluded. Electromyography (EMG) involves the insertion of thin, sterile needles into specific muscle groups to detect changes in the nerves upstream or else in the muscles. Electroneurography (ENG) uses electrical impulses to examine selected nerve cords in the arms and legs.
In only a few cases is tie removal from a muscle (muscle biopsy) necessary. It is carried out in particular when a muscle disease is suspected, for example inclusion body myopathy.
Nerve biopsy, the removal of a piece of a nerve cord, for example from a small cutaneous nerve in the calf (sural nerve), can be ordered if there is evidence of certain diseases of the peripheral nerves (neuropathy).
Both procedures are carried out in the diagnosis of ALS after special clarification in the context of an inpatient diagnosis.
Other causes of ALS
Other diseases that should be ruled out when making a diagnosis include the following
– mechanical impairments of the spinal cord, for example cervical myelopathy, rare metabolic disorders with changes in the white matter of the brain (leukencephalopathies), – neurological sequelae of tumors (paraneoplastic syndromes) – and sequelae of circulatory disorders of the brain or spinal cord.
Depending on the problem, various imaging methods (cerebral and spinal magnetic resonance imaging = MRI), blood tests, and analysis of cerebrospinal fluid (CSF puncture) are used.
As a neuroprotective therapy, a treatment trial with riluzole is recommended in any case. This is a drug that has been approved for the treatment of amyotrophic lateral sclerosis on the basis of clinical studies and the proven positive effect on the course of the disease. The skepticism of some medical colleagues regarding the circumscribed effect is not justified. On the contrary, treatment should be started when the presence of ALS is suspected (50 mg: 1-0-1). However, there are also patients who do not tolerate riluzole and develop, for example, gastrointestinal symptoms such as nausea and inappetence. Then the treatment should be suspended.
The aim of symptomatic treatment of ALS is always to maintain the quality of life and self-determination of the affected person as far as possible. Here you will find information about treatment options for the following symptoms:
Fasciculations and muscle spasms
Fasciculations (muscle twitches) can occur in the context of ALS, but are only partially experienced by patients as unpleasant and only rarely as painful. An attempt at therapy, for example with gabapentin (z.B. Neurontin®) in ascending doses is justified if the patient is impaired (start with 3 x 100 mg and increase to, for example, 3 x 600 mg/day). The expression of the fasciculations changes in the course of the disease and often decreases in the course of the disease.
Muscle cramps (crampi) also occur frequently in patients with ALS, but like fasciculations, they are only a very non-specific symptom. Much more often muscle crampi and fasciculations occur in the context of other, harmless diseases or even represent the only symptoms. This is then referred to as a crampus fasciculation syndrome. Severe muscular stress, but also cold, lack of water and electrolytes, and other factors such as sleep deprivation, alcohol, or nicotine can promote the occurrence of muscle cramps and fasciculations. However, they also occur spontaneously. Prophylactically, for example, regular physical endurance training can be recommended. Acutely, passive stretching of the affected muscle can achieve symptom relief.
In case of frequent occurrence with subjective influence, a therapy attempt with magnesium, quinine (z.B. Limptar®), as well as "membrane-stabilizing" medications (e.g., anticoagulants).B. gabapentin or pregabalin) is carried out. According to a meta-analysis (American Academy of Neurology (AAN) in the journal "Neurology" from February 2010), quinine sulfate (Limptar N®) shows the best effect and is therefore regularly recommended for other nerve and muscle diseases, but the cost coverage by the insurance companies is sometimes difficult. At a recommended dose of 200 mg twice a day, the monthly cost of treatment is approximately 32 euros.
Limptar N is available without a prescription at pharmacies. On the other hand, the use of quinine sulfate for "nocturnal calf cramps" (gabapentin or pregabalin) is not recommended No longer approved in Australia and New Zealand for several years because of the incidence of thrombocytopenia and related deaths. In 2009, the FDA again warned against use in this indication, which is no longer approved. In June 2010, the English Medicines Agency significantly restricted the use of quinine sulfate in this indication.
Interestingly, magnesium has not been shown to be effective in the treatment of muscle spasms. However, due to the low costs and the unproblematic side effect profile, a therapy trial with magnesium is still justified at the present time and continues to be considered the standard of therapy.
Saliva and mucus production (sialorrhea)
Sialorrhea (increased amounts of saliva in the mouth, sometimes with discharge from the mouth, occurs with the onset of dysphagia (inability to swallow the saliva produced) and is often very distressing to patients. In addition to the health risk from aspiration of saliva, the loss of saliva from the mouth leads to a significant impairment of quality of life. From a palliative medical point of view, the treatment of sialorrhea is therefore generally indicated and important.
However, the thickening of mucus and increased bronchial secretion as well as a disturbance of coughing up due to a weakness of the respiratory and respiratory support muscles are to be distinguished from sialorrhea.
Various medications that inhibit saliva production are available. Usually, treatment is with amitriptyline (z.B. Saroten®), since this antidepressant has a pronounced dry mouth side effect (anti-cholinergic effect). At the beginning an oral dose of 10 to 25 mg/day is taken in the evening. Subsequently, the evening dose can be increased to 75 mg. A morning dose can be supplemented. Alternatively or in combination, treatment with a scopolamine patch (e.g.B. Scopoderm TTS®) or atropine (z.B. drops, Atropine sulfuricum AWD Tablets®). Before an appropriate treatment, the consultation with the family doctor and an ECG examination should take place.
If the effect is insufficient, especially during the course of the disease, local application of botulinum toxin type A (BoNT-A: Dysport®, Botox® or Xeomin®) to the salivary glands can be given as an alternative or as a supplement to oral medication. For this purpose, an ultrasound-guided injection is made into the parotid gland (parotid gland) as well as into the salivary gland below the mandible (submandibular gland). This chemical denervation of the salivary glands leads to a reduction in saliva production for about three to four months. Due to the possibility of also weakening the chewing and swallowing muscles, treatment should only be carried out if the treating physician has sufficient experience and has provided detailed information to the patient. In addition, the first treatment must be approved by the payer, as it is an "off-label use". On the whole, however, local BoNT injection is a very effective treatment. Therapy with few side effects available. Treatment is only required three to four times a year.
Radiation therapy of the parotid gland is increasingly carried out in cooperation with certain practices and specialist departments. In contrast to the BoNT injection, the salivary glands are permanently damaged with a gradual reduction in saliva production. Sufficient data are now available on this therapy, so that radiotherapy is an established treatment method for reducing salivary flow in amyotrophic lateral sclerosis and is recommended by both the German Society of Neurologists and Radiotherapists.
Thickening of mucus, increased bronchial secretion
N-acetylcysteine (z.B. ACC®) or ambroxol (z.B. liquefy bronchial secretions. To enable coughing up. However, it is crucial to ensure adequate fluid intake. Also an inhalative therapy possibly also with secretolytics, (z.B. Mucosolvan®, Bromhexine Inhalate®) can be performed.
Decreased coughing up
In the case of additional muscle weakness of the respiratory and thus also the "cough" muscles with significant restriction of coughing up (vital capacity reduced to less than 50 percent), the indication for provision of a cough support (e.g.B. Cough-Assist® from Heinen and Lowenstein) can be provided. In addition, a "shaking massage" of the chest z.B. by means of Vibrax® but better by means of a so-called shaking vest.
At the same time, respiratory therapy with "forced secrtemic management" should be carried out. Due to a weakness of the chewing-. swallowing dysfunction occurs due to a manifest impairment of the pharyngeal musculature. Caused by degeneration of motor neurons in the brainstem (bulbar symptomatology) or in superior areas (pseudobulbar symptomatology). Common initial symptom of bulbar symptoms is swallowing of fluids.
The consequences of dysphagia are a tendency to aspiration (uncontrolled entry of saliva and food into the respiratory tract) of saliva and food components, a sometimes pronounced prolongation of the duration of meals, and a reduction in oral food intake. Weight loss, on the other hand, often occurs before the onset of dysphagia as an inherent symptom of the disease.
Possible consequences of aspiration are acute respiratory distress (dyspnea) due to obstruction of the airways with sometimes pronounced anxiety as well as inflammation of the airways (bronchitis) and the lungs (pneumonia).
If dysphagia occurs, logopedic treatment with functional swallowing training (learning important compensatory strategies such as reducing the size of swallowing units, deliberate coughing after swallowing, etc.) is necessary.) indicated.
Gastric tube (PEG) in case of dysphagia
In case of a manifest impairment of the quality of life due to the dysphagia, we recommend the insertion of a feeding tube (percutaneous endoscopic gastrostomy = PEG) at an early stage. Via the PEG, food is taken directly into the stomach, bypassing the mouth and the esophagus.
The aim here is to enable the patient to eat by mouth as a "pleasure food" for as long as possible, irrespective of the necessary nutrition, which can be provided initially to a small extent and later possibly almost exclusively via the PEG. This means that a gastric tube should be inserted as early as necessary. Not placed as late as possible in consultation with the patient.
The PEG is inserted during a short hospital stay of about five days in a neurological or internal medicine clinic. The ALS outpatient clinic at the Alfried Krupp Hospital in Ruttenscheid cooperates with the Clinic for Pneumology, Gastroenterology and Internal Medicine in Steele.
The surgical procedure is performed in an endoscopy department and takes less than an hour. In this case, the procedure is usually performed as part of a gastroscopy using the thread-pulling method. After local anesthesia, an incision of a few millimeters is made in the abdominal skin, through which a cannula is inserted into the stomach, through which a thread is pulled and extracted from the patient's mouth through the stomach and esophagus by means of an endoscope. The gastric tube is now attached to this thread and pulled out through the mouth, esophagus and stomach by pulling on the other end of the thread. A plastic plate is attached to the inner end of the probe to prevent the probe from slipping through to the outside. The probe is fixed to the abdominal wall by a counter plate. A liquid diet containing energy, vitamins and minerals can be administered through the PEG tube just a few days after the procedure. After discharge home, instructions should be given by a specially trained outpatient nurse or nutritionist. The focus is on the handling of the PEG tube. During the further course of the disease, control of the PEG entry site. Nutritional therapy by nutritional therapists takes place.
Physiotherapeutic treatment is the basis of paresis treatment in ALS. However, a special physiotherapy for the treatment of ALS has not yet been developed. Regular physiotherapeutic exercise treatment on a neurophysiological basis (KG-CNS) by a neurophysiological practice that is well versed in the treatment of neurological clinical pictures is recommended. (two to three times a week for at least 30 to 45 minutes). Special experience with ALS is an advantage, but not mandatory.
The primary goal of physiotherapy is to maintain the function of the still intact musculature as well as the already affected musculature. Furthermore, it serves the prophylaxis of complications such as pain, contractures (shortening of tendons), thrombosis, etc.a. However, the progression of the disease and thus an increasing disability cannot be prevented by physiotherapy.
The use of therapeutic aids (z.B. orthoses), positioning and transport aids (stair lifts, bathtub lifts, nursing beds, etc.).) and mobility aids (walkers, stand-up aids, wheelchairs, etc.).) requires specialized information, consultation and care.
In ALS, severe spasticity requiring treatment is relatively rare. The aim of antispastic therapy is to control symptoms, for example, to reduce pain by decreasing increased muscle tension while at the same time maintaining the required holding tone, and possibly also to achieve a functional improvement in the ability to move. Here, too, physiotherapeutic therapy on a neurophysiological basis is the method of choice. In the case of pronounced symptoms, independent therapy at home on a movement trainer is useful.
Oral, drug treatment of spasticity can be carried out with the following drugs: Tolperisone (z.B.Viveo®, Mydocalm®), baclofen (Lioresal®) and tizanidine (Sirdalud®). However, it is problematic in many cases, since high doses of medication are often required, there is usually a locally accentuated symptomatology, and there is a risk of the occurrence of undesirable drug effects with, for example, fatigue, impaired balance, staggering, weakness and similar symptoms. In the case of clearly pronounced spasticity in a circumscribed area, in the event of failure of drug therapy or in the event of insufficient effect. The occurrence of side effects of treatment with botulinum toxin should be discussed. This involves a local intramuscular injection of botulinum toxin type A (BoNT-A: Dysport®, Botox® or Xeomin®) into the affected muscle group. The goal is a circumscribed "chemical denervation" with weakening of the overactive musculature. The advantage is the purely local effect (systemic effects are still possible in the high-dose range) with a manageable risk of side effects (bleeding, inflammation, pain). Excessive weakening of the musculature is theoretically possible, but almost never occurs in practice. The hoped-for effect becomes apparent after about one to two weeks. Lasts for about three months. Afterwards a new injection is necessary. Long-term effects or damage are not expected. However, the indication is limited to a circumscribed symptom of discomfort due to spasticity, for example in the area of the foot or toes. Furthermore, there is still no approval for the use of BoNT for the treatment of spasticity due to ALS, so that prior cost approval from the cost bearer is also required in this case.
A speech disorder (dysarthria) is another typical symptomatology with manifestation of the disease process in the bulbar area with pronounced weakness of the "speech apparatus" or as pseudobulbar dysarthria with accentuated damage to the central, first motoneuron (spastic influences) with a movement and coordination disorder of the speech process. Speech-dependent respiratory distress (exertion-dependent dyspnea) may also be present.
The therapy of choice is logopedic treatment, which consists, for example, of breathing and speaking exercises to use the residual functions of the speech apparatus.
If the patient is manifestly disabled, the individually adapted provision of communication aids is necessary. Simple writing and lettering boards place a high demand on the functionality of the arms in this case. Electronic communication or. Control agents can be adapted to a further increase in the degree of disability in the course of the disease. Appropriate control techniques even allow control of processes in the patient's immediate environment (control of lamps, window opening, TV, CD player, leaf turning devices, etc.).), with increasing loss of arm motor function also through preserved eye muscle function (environmental control).
Pathological laughter, crying, yawning
The symptom of pathological laughing, crying and yawning is an uncontrolled laughing, crying or yawning that is situationally and emotionally unjustified. This is the result of central damage (central disinhibition, motor dysinhibition) and is an expression of the pseudobulbar syndrome. First and foremost, the patient must. His environment to be informed about the cause of the complaints. A drug treatment attempt can be made if the patient is severely burdened by the symptoms. For example, the serotonin reuptake inhibitors citalopram (Cipramil ®) or fluvoxamine (Fevarin®) are available in high doses. Alternatively, a treatment trial with L-dopa (z.B. D: Nacom®, Madopar®) or lithium (z.B. Quilonum®) is possible, but the results are usually worse.
Respiratory failure (respiratory insufficiency)
Weakness of respiratory and respiratory support muscles (hypoventilation) is a regular symptom of advanced ALS and is the limiting factor for patients' life expectancy. As a rule, however, there is no suffocation due to lack of oxygen, but an increase of carbon dioxide in the blood (retention) with a corresponding clouding of consciousness. Symptoms typically include nighttime sleep disturbances, nightmares, restlessness and tachycardia (accelerated pulse), morning headaches, fatigue, daytime sleepiness, and concentration problems.
Non-invasive mask ventilation is possible to treat the symptoms of chronic hypoventilation; as a rule, oxygen should not be used. In the further course, there is in principle the possibility of a tracheotomy and the performance of invasive mechanical ventilation, but this is currently performed in Germany only in less than ten percent of ALS patients.
Long-term ventilation is predominantly carried out with a home ventilation technique in nursing care by ambulatory ventilation teams. Specialized counseling of patients and their relatives about the various forms of ventilation and the corresponding consequences should be carried out beforehand. Non-invasive mask ventilation cannot stop the natural progression of the disease. Also do not significantly affect patient survival.
ALS patients who receive invasive mechanical ventilation, on the other hand, no longer die from the effects of ALS and experience further stages of the disease that a patient without ventilation does not experience. These consequences must be discussed openly. Patient decision should ideally be recorded earlier in the course of illness in the form of an advance directive.