Clinical picture
The onset is observed at the age of 40, men get sick more often. The development of symptoms is gradual. Patients are concerned about a feeling of stiffness, fatigue in the legs, convulsive tightening in the legs. Initially, it becomes difficult to bend the legs at the knee and hip joints, then the pathological changes increase (up to the impossibility of “tearing the feet off the floor”). Weakness in the lower extremities develops over several years. In the later stages of the disease, dysfunction of the pelvic organs appears in the form of an imperative urge to urinate.
An objective examination of the patient reveals pyramidal muscle hypertonicity, decreased strength in the lower extremities from mild lower paraparesis to lower paraplegia, spastic-paretic gait, hyperreflexia with expansion of the reflexogenic zone, foot clonus (Fig. 2), pathological reflexes from the lower extremities (Babinsky , Oppenheim, Schaeffer) (Fig. 3), violation of deep sensitivity.
Contractures and deformities in the feet (30%), pronounced lumbar lordosis (10%), dysfunction of the pelvic organs (5%) are noted.
Rice. 1 | Rice. 2 | Rice. 3 |
Modern classification
There are several classifications of Strumpel's disease, which take into account several aspects.
According to the mechanism of inheritance, they are divided into the following types:
- autosomal dominant type;
- autosomal recessive type;
- X-linked type.
Depending on the clinical manifestations and specifics of the course, the following forms are distinguished:
- uncomplicated form - there is spastic lower paraparesis, without other disorders;
- complicated form - in addition to lower paraparesis, there is atrophy of the optic nerves, dysarthria, retinopathy, cerebellar ataxia, epilepsy, mental retardation, hearing disorders, cardiac malformations, foot deformities).
Based on heredity, Shtrumpel's disease is divided into:
- familial - the disease is transmitted from the older generation to the younger;
- idiopathic - the disease is undocumented in the family history.
Depending on the age at which the disease began to develop, there are two types:
- type 1 – the disease develops before the age of 35, spasticity of the lower extremities is observed more often than weakness, walking is less difficult;
- type 2 – the disease occurs after the age of 35, muscle weakness, disturbances in the urinary tract, muscle weakness are more often observed, the development of the disease is faster than with the first type.
The disease is also classified depending on the gene defect. Types are designated by the international abbreviation of the familial spastic paraplegia gene (SPG) followed by numbers from 1 to 76 (the numbers represent the loci at which the mutation occurred). At the moment, it is believed that type 4 SPG is the most common (more than a third of cases of the disease).
Treatment of Strumpel's disease
- Symptomatic therapy.
- Muscle relaxants.
- Intrathecal infusions of muscle relaxants.
- Local injections of botulinum toxin.
- Physiotherapy.
Treatment is prescribed only after confirmation of the diagnosis by a medical specialist.
Essential drugs
There are contraindications. Specialist consultation is required.
- Mydocalm (muscle relaxant). Dosage regimen: orally, after meals, without chewing, with a small amount of water at a dose of 50 mg 2-3 times a day, gradually increasing the dose to 150 mg 2-3 times a day.
- Sibazon (sedative, hypnotic, anxiolytic, anticonvulsant). Dosage regimen: orally, at a dose of 5–10 mg 2–3 times a day.
- Sodium adenosine triphosphate (an agent that improves metabolism and energy supply to tissues). Dosage regimen: intramuscularly, in the first 2–3 days, 1 ml of a 1% solution is administered once a day, in subsequent days, 2 times a day or immediately 2 ml of a 1% solution once a day. For a course of treatment - 30–40 injections.
- Pentoxifylline (an agent that improves microcirculation). Dosage regimen: orally, swallowing whole, during or immediately after a meal, with plenty of water, at a dose of 100 mg 3 times a day, followed by a slow increase in dose to 200 mg 2-3 times a day.
- Milgamma (B complex of vitamins). Dosage regimen: therapy begins with 2 ml intramuscularly 1 time per day for 5-10 days. Maintenance therapy - 2 ml IM two or three times a week.
- Cerebrolysin (nootropic drug). Dosage regimen: used parenterally in the form of intramuscular injections (up to 5 ml) and intravenous injections (up to 10 ml). The drug in a dose of 10 ml to 50 ml is recommended to be administered only through slow intravenous infusions after dilution with standard solutions for infusion. The duration of infusions ranges from 15 to 60 minutes. Administered parenterally in a dose of 5 ml to 30 ml/day. The recommended optimal course of treatment is daily injections for 10–20 days.
Classification of Strumpel's disease
In clinical practice, a classification of familial spastic paraplegia is used, which takes into account several different aspects. Depending on the mechanism of inheritance, autosomal dominant, autosomal recessive and X-linked forms are distinguished. In the first case, if one of the parents has Strumpel’s disease, then the probability of the disease in the offspring is 50%. In the second, a disease in a child is possible if both parents are carriers of the defective gene, the risk of having a sick child is 25%. In X-linked inheritance, only males are affected; women are carriers of the pathological gene.
According to clinical manifestations, Strumpel's disease is classified into uncomplicated (simple) and complicated (complex) forms. The former are not accompanied by other leading symptoms other than spastic lower paraparesis, the latter are its combination with other neurological disorders (epilepsy, mental retardation, hearing impairment, optic nerve atrophy, retinopathy, cerebellar ataxia, dysarthria). There are also Strumpell's disease with onset in childhood, adolescence and adulthood.
Based on the type of gene defect, the classification is constructed in the form of a numerical sequence. The English abbreviation for the familial spastic paraplegia gene is SPG, followed by a number from 1 to 56 or more (due to the constant discovery of new types of mutations). Studies have shown that the most common type is SPG4, which accounts for up to 40% of cases.
Incidence (per 100,000 people)
Men | Women | |||||||||||||
Age, years | 0-1 | 1-3 | 3-14 | 14-25 | 25-40 | 40-60 | 60 + | 0-1 | 1-3 | 3-14 | 14-25 | 25-40 | 40-60 | 60 + |
Number of sick people | 0 | 0 | 1 | 4 | 4 | 4 | 0.4 | 0 | 0 | 1 | 4 | 4 | 4 | 0.4 |
Symptoms of Strumpel's disease
With the early onset of the disease, the first symptoms are a delay in the formation of walking skills and tiptoeing. When starting at an older age, the clinic manifests itself as difficulty walking with frequent falls. Often the first complaint of patients is “poor support of the feet when walking,” “stiffness in the legs.” Increased muscle tone in the legs is present from the very beginning of the disease. During its debut, it can be transient in nature: it intensifies when walking and disappears at rest. Spasticity predominates in the soleus muscles of the leg, adductors and posterior muscles of the thigh. It may be asymmetrical. In some cases, the patient complains of problems with only one leg. However, a neurological examination reveals a bilateral increase in tone and hyperreflexia of both legs with the presence of pyramidal foot signs (Oppenheim, Babinsky, Bekhterev, Rossolimo, etc.), foot clonus can be caused.
Strumpel's disease is characterized by gradual development. A decrease in strength in the leg muscles (paresis) appears after a fairly long period. In autosomal recessive forms it is several years, in dominant forms it is even longer. Among sensory disorders, some patients experience mild disturbances in vibration perception, and sometimes paresthesia in the legs and feet. More pronounced sensory disturbances are observed with the addition of polyneuropathy, usually in complicated forms.
Symptoms
Occurrence (how often a symptom occurs in a given disease) | |
Fatigue during physical activity (fatigue, loss of strength) | 100% |
Difficulty bending the legs at the knee and hip joints | 100% |
Stiffness, fatigue of the legs when walking and running | 100% |
Difficulty lifting your feet off the floor | 90% |
Tightening cramps in the leg muscles | 90% |
Gradually increasing weakness in the leg muscles (leg weakness) | 20% |
Frequent urge to urinate | 20% |
Manifestations of the disease
How does Strumpel's disease manifest itself? The symptoms of the pathology are simple. In the case of an uncomplicated form of the disease, symptoms are limited to paraparesis of the lower extremities, pain in the lumbar area, and increased tone of the leg muscles.
Let us note the symptoms that characterize all forms of the disease:
- difficulty walking (the nature depends on the age of the patient). In the case of a small child, difficulties arise at the stage of the baby learning to walk. Sick children are delayed in starting to move independently on their feet. While walking, the baby timidly steps over and transfers his body weight to his tiptoes. From infancy, the child loses the ability to have a correct gait. A middle-aged person may fall when walking and experience chronic pain in the lower extremities. The nature of the pain depends on the position and current condition of the patient. An elderly patient may experience a state of partial (complete) immobility. A person experiences joint pain, sometimes there is deformation of the joints;
- weakness of the leg muscles, increased muscle tone due to excessive tension;
- leg fatigue;
- chronic fatigue, nervousness;
- joint ailments;
- foot deformity;
- paraparesis of the lower extremities;
- paresthesia;
- atrophy of the leg muscles (sometimes arms);
- synchronicity of symptomatic manifestations;
- progressive nature of symptoms.
An advanced form of the disease can lead to urinary incontinence and leg cramps. Senile age is an additional complication of the pathology, which leads to the development of epilepsy, the appearance of disorders in the motor system, etc.
All symptoms of the disease are gradual and progress over time. For this reason, the disease may remain undetected for a long time.
Diagnosis of Strumpel's disease
The presence of lower central paraplegia as a basic symptom and its familial nature are of decisive diagnostic importance. In sporadic and complicated forms, the neurologist has to carry out differential diagnosis with ALS, spinal cord tumor, spinal variant of multiple sclerosis, vascular myelopathy, and neurosyphilis. To differentiate Strumpell's paraplegia from leukodystrophies, an MRI of the brain is performed. In some cases, it reveals atrophic changes in the cerebral cortex. MRI of the spine visualizes degenerative-atrophic processes in the lateral and anterior columns at the level of the thoracic and/or lumbar segments of the spinal cord.
An auxiliary method in the diagnosis of Strumpel's disease is electroneuromyography (ENMG) and the study of evoked potentials. ENMG allows you to determine the presence and degree of neuropathy. The study of somatosensory EPs demonstrates a delay in conduction along the posterior spinal columns, while the study of cortical EPs demonstrates a decrease in the speed of conduction along the corticospinal tract. Genealogical analysis and molecular genetic studies are of great diagnostic importance. Due to the great heterogeneity of pathology, the latter are carried out only for the most common types of disease. Prenatal diagnosis is possible.
Treatment of pathology
As with any serious illness, timely treatment of Strumpel's disease is more likely to give a good result. Doctors talk about good prognosis if the patient follows their recommendations.
Strumpel's disease is not fatal, but it significantly impairs the quality of life and can lead to other diseases. For treatment, the doctor prescribes drugs that relax the muscles of the legs and arms:
The dosage of the drug is adjusted by the doctor. Sometimes, if the desired effect is not achieved, it is increased. But you cannot change it yourself; this may lead to undesirable consequences. Tranquilizers:
The following drugs are prescribed as general tonics: Piracetam, Nootropil, Encephabol, Aminalon and others.
In addition to these medications, the doctor prescribes vitamins, sedatives and various relaxants.
For Strumpel's disease, reflexology, special therapeutic exercises, paraffin baths, and physiotherapy are also indicated. Acupressure gives good results. Baths with pine needles and pine resin can be classified as folk medicinal measures.
Orthopedic therapy is also used in treatment. It involves the use of special prostheses to help the patient move. Surgical treatment may also be prescribed.
It is important for people with this illness to also visit a psychotherapist. The disease often affects the patient's lifestyle. He has to completely restructure his behavior in all areas of life. To avoid falling into severe depression, you need the help of a doctor.
It should be remembered that any therapy is individual in nature. The diagnostic picture is also important, as is the presence of any other infections, diseases, and how the disease manifests itself in the present. Therapy must also be comprehensive.
Treatment
Strumpel's disease, the treatment of which can only be symptomatic, is a complex disease from a psychological point of view. Patients need to be provided with comprehensive moral support, and courses of symptomatic treatment should be carried out at least twice a year.
Therapy for the disease is aimed primarily at relieving muscle hypertonicity, using muscle relaxants (mydocalm, baclosan, sirdalud and others). Orthopedic methods of influence (wearing orthoses and other devices), neuroprotective drugs (B vitamins) are also used. Patients are prescribed physiotherapeutic procedures, paraffin baths, relaxing massage, and metabolic drugs.
With constant and complete treatment, the progression of the disease is very slow and a person may not significantly lose quality of life for a long time.
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