Strumpel disease is a pathology characterized by the gradual development of weakness in the lower extremities against the background of an increase in muscle tone in them. This is a hereditary disease that can be diagnosed at any age, from early childhood to old age.
General information
Strumpel disease is a chronic progressive pathology of the nervous system, which belongs to the group of heterogeneous ailments. It is characterized by bilateral lesions of the so-called pyramidal pathways in the anterior and lateral cords of the spinal cord. Dominant forms of the disease are formed during the first few years of a person’s life, and recessive forms at a later age and are characterized by a severe course.
For the first time this pathology was described in detail by A. Strumpel in 1866. The specialist noted the family nature of the course of the disease. In the medical literature, you can find other names for pathology (Strumpel paralysis, familial spastic paraplegia).
The course of the disease is defined as slowly progressing. When it occurs at an early age, a more malignant character is noted. In the case of late development, hypertension and hyperreflexia most often prevail over various motor disorders. The prognosis, according to experts, is favorable for patients. The degree of loss of normal working capacity primarily depends on the severity of central nervous system dysfunctions.
According to the International Classification, Strumpel disease (ICD-10) is encoded under the code G11.4.
Main reasons
The exact causes of the development of this disease are currently unknown. Specialists in this field only express various hypotheses, but none of them has yet found scientific confirmation.
Heredity of the disease
This disease can be transmitted solely by inheritance. In total, experts distinguish several of its types:
- Autosomal dominant (in a married couple, where one of the parents suffers from this pathology, the probability of having a baby with this diagnosis is from 50 to 100%).
- Autosomal recessive (the probability of the birth of an unhealthy child in a married couple, where one of the parents is already sick, can be from 0 to 50%).
- Linked to the X chromosome (most often the disease is diagnosed in males).
In medical practice, special cases are known (for example, Beer's syndrome, which is manifested by optic atrophy), when the symptoms of the disease very much resemble familial spastic paraplegia, but nevertheless they are independent diseases.
How is Strumpel disease manifested? Symptoms
The development of the disease and the manifestation of symptoms occurs gradually. Patients initially complain of painful discomfort in the legs, a constant feeling of stiffness and convulsive contractions. After some time, bending of the legs in the knee joints becomes difficult, then such pathological changes increase. Some cannot tear their feet off the floor. Moreover, it is deformed (shortened and becomes slightly higher than normal). In the later stages, serious violations of the functions of the pelvic organs appear in the form of constant urges to urinate.
Forms of the disease
Based on the characteristics of the course of pathology, the following forms are distinguished in medical practice:
- Uncomplicated (in the clinical picture of patients, weakness in the muscles of the lower extremities predominates without concomitant disorders).
- Complicated (in addition to the above symptoms, patients are also diagnosed with heart defects, foot deformity, etc.).
Depending on the presence of confirmed cases of illness among close relatives, they distinguish:
- Family disease Strumpel (inheritance is carried out from parents to children).
- Idiopathic variant of the disease (in this case, the family history of the pathology cannot be detected).
Establishing diagnosis
When symptoms appear, it is very important not to self-medicate, but to seek help from a doctor. At the appointment, the specialist first of all collects the patient’s medical history, listens to complaints and asks questions (when there was a weakness in the legs, did close relatives have such pathologies, etc.).
The next step is a neurological examination. It implies an assessment of muscle strength in the arms and legs, the search for pathological reflexes. Additionally, computed and magnetic resonance imaging of the spinal cord itself can be prescribed. Such a study allows you to study its structure in as much detail as possible and identify the possible thinning of the pyramidal tracts. Note that in most cases, CT and MRI do not show pathological changes.
How else can I confirm Strumpel disease? Diagnosis of the disease also includes the study of sensory potentials. This method allows you to assess the degree of conducting sensitive impulses throughout the spinal cord. Mandatory DNA analysis is prescribed to detect the presence of gene mutations.
Particular attention should be paid to differential diagnosis, which in some cases causes difficulties. This disease is extremely important to differentiate from Mills syndrome, a degenerative lesion of the central nervous system characterized by expansion of the cerebral ventricles and atrophy of the frontal and precentral gyrus. Clinically, this ailment manifests itself slowly. In the last stages of the development of the disease, bilateral paralysis is observed.
It is important to differentiate family spastic paraplegia from the so-called spinal type of multiple sclerosis. Here it is necessary to take into account the condition of the abdominal reflexes, sphincters, the course of the entire disease. Particular attention in this case is given to the patient's history. Only after passing all analyzes and tests can confirm Strumpel disease.
Treatment
Modern medicine cannot offer effective methods of treating this disease. Therapy is reduced to reduce symptoms and improve the quality of life of the patient.
Patients are prescribed drugs for a gradual decrease in muscle tone (Midokalm, Baclofen, Isoprotan), tranquilizers (Sibazon, Nozepam, Chlozepid), and B vitamins.
Physiotherapeutic procedures, coniferous baths, paraffin applications for the lower extremities are shown to patients with this diagnosis. In addition, a positive result can be seen after reflexology, acupressure and a course of physiotherapy exercises.
Orthopedic therapy implies the use of special orthoses that help a person move.
It is important to note that in each case, the course of therapy and related procedures are prescribed individually. The doctor should take into account not only the results of the examination, but also the general condition of the patient, the severity of clinical symptoms and the presence of other diseases. It is recommended that priority attention be given to the selection of medications and to apply them strictly at the prescribed dosage. Otherwise, the likelihood of an unfavorable prognosis increases.
Strumpel disease is a rather complex pathology from a psychological point of view. Close and relatives should provide comprehensive moral assistance. The courses of the above symptomatic treatment are recommended to take at least two times a year. With constant and adequate therapy, the progression of the disease can be slowed down. This means that a person can lead a habitual lifestyle for a long time and even work.
Complications and consequences
Strumpel disease is not only dangerous for its clinical presentation. A person with such a diagnosis sooner or later loses the ability to fully move around without assistance. In addition, the ailment leaves its mark on labor adaptation due to a pronounced defect in the neurological nature in the form of weakness of the leg muscles. As a result, patients cannot work, gradually lose interest in life. Such people need the help of not only a specialized specialist, but also a psychologist.
Preventative measures
Unfortunately, modern medicine cannot offer adequate methods for the prevention of this disease, since its main causes are unknown.
On the other hand, experts are sure that you should try to lead the right lifestyle, eat balanced, give preference to healthy foods, do not smoke. Sports activities have a firming effect on the whole organism. If close relatives have a history of Strumpel disease, it is advisable to consult a doctor on this issue and, if necessary, undergo a full examination several times a year. This approach will allow not only timely detection of pathology, but also take all measures to reduce its progression.
Conclusion
In this article, we talked about what Strumpel disease is. Photos of patients with such a diagnosis can be found in specialized medical guides. Of course, this pathology requires not only a qualified approach to treatment, but also constant moral support from relatives.
Scientists from around the world continue to actively study this disease, its main causes of development and adequate treatment methods. Already today, assumptions are made about a particular gene and its mutation, which directly affects the appearance of the ailment.
We hope that all the information presented here will be really useful for you. Be healthy!