In progressive bulbar palsy, the motor nuclei of the trigeminal, facial, glossopharyngeal, vagus, and hypoglossal nerves die. This wasting causes paralysis of the face and esophagus. Similar symptoms characterize ALS, so that progressive bulbar paralysis is sometimes referred to as an ALS subtype.
What is progressive bulbar palsy?
Progressive bulbar palsy is a systemic progressive atrophy associated with tissue wasting in the motor cranial nerve nuclei. The tissue atrophy centers on the medulla oblongata and spreads from there. In addition to a form of the disease in adults, there is an infantile variant with a child-like manifestation age. See healthknowing for What is the Definition of Voiding Syncope.
Both forms of the disease are among the neurological diseases and primarily affect the motor neurons. Progressive bulbar paralysis is classified as a spinal muscular atrophy, which is associated with a specific distribution pattern. With the onset of the disease in childhood, the disease is sometimes also called Fazio-Londe syndrome.
Some sources refer to the progressive bulbar paralysis of adulthood as a special form of the degenerative disease ALS. When associated with symptoms of deafness, progressive bulbar palsy is also known as Brown-Vialetto-van Laere syndrome.
The exact causes of the individual forms of progressive bulbar paralysis are not yet known. In some cases, science was able to detect a mutation of the so-called Cu-Zn superoxide dismutase. This substance is an enzyme that runs conversion processes in the body and catalyzes reactions with the product hydrogen peroxide.
The relationship with the degenerative disease ALS is suspected primarily because of the discovered mutation in the SOD gene, which encodes the enzyme described. This mutation can not only be detected in many cases of progressive bulbar paralysis. According to recent research results, the defects in the SOD gene can also be detected in people with the hereditary familial form of ALS.
The defect results in cytotoxic effects of the unstabilized SOD. The mutation supports a high accumulation tendency of the corresponding protein, which is responsible for cell death. Only nuclear lesions of the cranial nerve nuclei cause bulbar palsy. A supranuclear lesion, on the other hand, causes pseudobulbar paralysis.
Symptoms, Ailments & Signs
Progressive bulbar paralysis causes the tissue of the motor core areas to gradually disappear. Patients experience increasing difficulty with everyday and vital movements such as chewing, swallowing, or speaking. The gag reflex of most of those affected is significantly reduced within a very short time.
Only a weak movement in the facial area is still possible for them. Unlike in ALS, not all of the core motor area is affected by the degenerative changes. Instead, the disease focuses primarily on cranial nerves V, VII, IX, X, and XII and the corticobulbar pathways of innervated muscles. The disease thus predominantly affects the motor neurons in the core areas of the trigeminal, facial, glossopharyngeal, vagus and hypoglossal nerves.
Therefore, unlike patients with ALS, patients usually do not suffer from spastic or flaccid paralysis of the limbs. The lungs and heart are also unaffected. Progressive bulbar palsy is symptomatically concentrated on the face, with the ocular muscle nuclei remaining intact.
Diagnosis & course of disease
The diagnosis of progressive bulbar paralysis is made using imaging techniques. In the MRI or CT, the nuclear lesions show up in the corresponding core areas. The disease must be differentiated from ALS in a differential diagnosis. Because of progressively increasing dysphagia, all forms of the disease have an unfavorable prognosis.
A common complication is aspiration of food or saliva, which often causes pneumonia and often leads to death within one to three years. In most cases, the disease progresses at a rapid pace. Rapid progression worsens the prognosis.
Progressive bulbar palsy has a very poor prognosis. As part of the purely symptomatic treatment, attempts are made to reduce the risk of complications occurring. The main symptom of progressive bulbar palsy is increasing dysphagia. Due to the obstruction of the swallowing process, the patient can no longer take in food and would starve to death without artificial nutrition.
In addition, however, there is always a risk of aspiration of food, which can lead to fatal complications. Aspiration is the inadvertent inhalation of food, liquid, or foreign objects, which then enters the bronchi. There they can lead to serious infections because the body is not able to remove the foreign bodies from the bronchi on its own. Severe pneumonia (inflammation of the lungs) often develops as a result of this aspiration of food or saliva.
In infantile progressive bulbar paralysis, these complications often lead to death between the first and third year of life. In adulthood, progressive bulbar paralysis often occurs as part of amyotrophic lateral sclerosis (ALS). The paralysis of the swallowing muscles is a particular complication of ALS and is responsible for the poor prognosis of this disease.
The best prognosis is progressive bulbar paralysis with deafness (Brown-Vialetto-van-Laere syndrome). In addition to the rapidly progressing course of the disease up to death, the course can be stopped at least temporarily in one third of the patients.
When should you go to the doctor?
Restrictions in the act of swallowing, problems with the chewing process and visual abnormalities in the face and neck area must be presented to a doctor. If food intake is refused, there is weight loss or an undersupply of the organism, the affected person needs medical help. Disorders of the gag reflex or irregularities in breathing must be examined and treated.
If there is a slow increase in symptoms over several weeks or months, a doctor must be consulted. In severe cases, no more food can be taken due to the impairments. This is a life-threatening condition for those affected. In order to be able to make a diagnosis at an early stage, a doctor’s visit should be made as soon as the first signs appear.
If the affected person repeatedly chokes or develops a fear of choking, a doctor should be consulted. Hyperventilation, a loss of muscle strength and signs of paralysis must be presented to a doctor as soon as possible. If the language changes, if the affected person withdraws or if their performance drops, the affected person needs help. Slurred speech or a refusal to speak in children should be taken as warning signs. If there is no change despite an understanding environment, a doctor is needed. A doctor should be consulted in the event of a deficiency symptom, internal dryness or problems with cleaning your teeth.
Treatment & Therapy
A causal therapy is just as unavailable for patients with progressive bulbar paralysis as it is for patients with ALS. For this reason, a purely symptomatic treatment takes place, which consists primarily of aspiration prophylaxis and saliva reduction. Feeding is by tube to exclude aspiration of food components.
Most patients suffer from hypersalivation. As the symptoms progress, they can no longer swallow the saliva and choke. The conservative treatment of these symptoms consists of administering anticholinergic drugs such as amitriptyline or methionine. Alternatively, Botox can be injected, which paralyzes the salivary glands.
Since many of those affected suffer from anxiety, the administration of fast-acting benzodiazepines is also an option as part of the therapy. These drugs are usually administered as drops because the patients can no longer swallow. One of the most important parts of treatment is the psychological care of patients and their relatives.
Since those affected in the adult form have to experience the progression of the disease with full awareness, psychotherapy should enable the patient to process and deal with the disease better. The glutamate antagonist riluzole has been approved for delaying ALS since 1996. Whether this drug can also delay the progression of progressive bulbar paralysis has not been clarified.
ALS is now also treated with stem cell therapy in the USA. This therapy is not approved in Germany. In addition, the effectiveness of therapy in progressive bulbar paralysis is not considered confirmed.
Progressive bulbar paralysis cannot be prevented at the present time, since the causes of the disease have not yet been conclusively clarified.
Progressive bulbar paralysis is currently an incurable disease, so follow-up care is very limited. The main aim here is to reduce the symptoms with the help of symptomatic aftercare. Since the risk of progressive dysphagia (swallowing disorders) is high with this disease, it is important to monitor it.
There is also a high risk of food inhalation and possible choking or respiratory irritation. Here, the patient is usually fed prophylactically via tubes. Furthermore, attempts are made to reduce hypersalivation, an increased production of saliva. This is usually done by administering drugs such as amitriptyline or methionine. Another alternative are botox injections into the salivary glands.
Psychological support is also important, as those affected often suffer from depression or anxiety. In some cases, additional medication is also necessary. After the disease with progressive bulbar paralysis, regular examinations are advisable in order to monitor the progression of the disease and to adjust medication if necessary.
Progressive bulbar palsy has a poor prognosis. The rapid progression of the disease to the point of death can only be delayed in a third of patients. There are already various therapeutic approaches, such as stem cell therapy, which are still in the test phase.
You can do that yourself
The options for self-help are very limited in progressive bulbar paralysis. The disease has an unfavorable prognosis and a difficult course of the disease. In everyday life, it is important that the patient works closely with the medical and nursing team. Immediately after the diagnosis, he should obtain comprehensive information about the disease and its further development. The restructuring of everyday life and the organization of sufficient care are vital. They should be timely so that additional complications are avoided.
In order to be able to handle the adversities of the disease well, it is necessary for mental strengthening to take place. In addition to the use of various relaxation methods and mental techniques, psychotherapeutic support is advisable. Joie de vivre and well-being are to be promoted. You have to learn how to deal with the disease. Also to prevent mental illness.
The exchange with other affected people can be helpful and beneficial. Self-help groups or closed Internet forums offer an opportunity to communicate with other sufferers. Mutual help for self-help is lived there.
Since progressive bulbar paralysis represents a great burden for relatives, they must also be informed in good time about further developments. Family cohesion is important to maintaining the patient’s health and should be nurtured.