Types, causes and treatment of spinal muscular atrophy
Spinal muscular atrophy is a rare disease of the nervous system, which in scientific medicine also called spinal amyotrophy. This pathology has several forms and can be passed to relatives even within a few generations. The patient disrupted motor neurons in the spinal cord and the brain. The result of a lesion of motoneurons becomes muscle weakness or atrophy. As a rule, the disease is diagnosed in infancy. Sick children rarely live up to two years. If amyotrophy manifested in adolescence or adulthood, a person can live up to 40 years.
causes of spinal muscular atrophy
Spinal muscular atrophy is purely hereditary in nature. If one of the parents is present in the body affected by the pathological change in the chromosome, it is invariably transmitted in an autosomal recessive manner and the child. If both parents are carriers of abnormal chromosomes, amyotrophy a child is found in the infancy. Generally, the holders of the chromosomes, the disease does not manifest itself, but their child has all the signs of impaired muscle performance.
In the damaged chromosomes there is a gene mutation that is responsible for protein synthesis in the body. Such a violation becomes a cause of muscle dysfunction. In a patient over time, atrophy of the muscles responsible for important life processes. Gradually lost breathing, swallowing reflex. The tone of the muscles of the body are invariably reduced, distorted face.
When amyotrophy appears in adulthood, it means that the pathologically altered chromosome is passed on from one parent. Spinal amyotrophy of adults is found only in men, as she bonded with the X-chromosome. The first signs of this disease manifest in men in middle and old age. To live with this disorder adult can be long enough. However, it is necessary to keep the body medicinal drugs, physical treatments and physiotherapy.
with the development of amyotrophy adults is sometimes influenced by external factors. The first manifestations of the disease may appear as a reaction to disturbed blood circulation, an unbalanced diet, problems with neuromuscular conduction, damage to internal organs and their systems, Smoking, alcohol abuse.
The Outcome of this disease is always fatal. How long a patient diagnosis that has set in adulthood, depends on him. With proper treatment and timely diagnosis of the motoneurons of the spinal cord and brain stem die off is not as fast as in the absence of therapy.
Classification types of the disease
Spinal and neural amyotrophy in scientific medicine is divided into several types. They differ in the nature of symptoms, severity of symptoms, the patient ability to act independently. Depending on the type of pathology, the doctors prescribe appropriate treatment, coordinated deceleration of the destructive reactions of the body.
Today, doctors talk about the four main types of spinal muscular atrophy, namely:
- the Disease verdniga-Hoffmann. Violation of this type is evident from the first days of a child's life, so it is also called infantile muscular atrophy.
- the Disease is Dubovica. This so-called intermediate species, the symptoms of which are found in the child from 7 months to two years.
- Disease of Kugelberg-Welander. This term is called juvenile type of deviation. The first signs observed in older children and always progressing.
- Adult type of the disease. From this violation affects men older and older. Proper treatment can slow down destructive processes and permanently extend the life of the patient.
All types of such deviations and abnormalities in the functioning of the nervous system are similar in one thing: to cure them completely is impossible. Fastest, the disease takes the lives of babies.
If the first 2 types are considered to be almost hopeless, the illness of Kugelberg-Welander and amyotrophy in adulthood can be controlled through medication, special procedures and physical therapy. The treatment of such disorders deals only with doctor's office, powerless.
When it detects the first signs of disease need to consult a geneticist, neurologist and neuropathologist. Doctors will conduct all necessary examinations, accurate diagnosis and tell the patient or his relatives about what you needto do next. Observing all recommendations of doctors, spinal-muscular atrophy can, if not overcome, significantly slow.
There is also a distal form of the disease. It is extremely rare. The basic difference is that the center of the primary lesion is located far from the center of the spinal cord. This type progresses quickly, treatment to give a weak positive result.
Disease werdnig-Hoffmann: symptoms and prognosis
The Disease in children is extremely rare. Usually it is diagnosed in one child of 100 of thousands of children up to two years. Statistics says that 7 out of 100 babies of thousands of newborns are early symptoms from the first day of life outside the mother's womb.
If the diagnosis reveals that the cells of the anterior horns of the spinal cord are underdeveloped. Cranial nerves are frequently subjected to pathological changes. Skeletal muscle still remain healthy individual bundles of neurons, but they are destroyed in a short period of time. The child may be hyalinosis hyperplasia of the connective tissue, the violation of the integrity of certain muscle fibers.
Doctors there are three subspecies of this disease:
- early childhood
- later kids.
Children with congenital subtype of AGR, as a rule, do not survive up to 9 years. From the first days of their life, symptoms such as decreased muscle tone, a complete lack of reflexes. Over time, the disturbed mechanism of sucking, quiet crying children, bad swallow. In addition, patients are not able to chew food.
As the child grows there is a paresis diaphragm, scoliosis, joint problems. The shape of the chest at the same time greatly modified and deformed. In addition, sick children often show signs of dementia and developmental defects.
Congenital form progresses very quickly. To 8 years, sick child turns into a completely incapacitated man. When breathing and swallowing reflexes are violated completely, the patient dying of heart failure, shortness of breath or digestive problems.
Early infantile form of the disease begins to develop from the second half of life. Fatal, typically takes place on 14 years of life. The first few months the baby is developing normally: holds his head, sits, learns to stand. But then manifest the same characteristics as that in the congenital form. This type develops softer and not as aggressive as congenital type. However, a lethal outcome occurs in any case.
Signs of late forms begin to manifest by age 2 years. The disease develops gradually and gently. First, the baby can even walk and run, but these skills disappear. People with this form can live up to 30 years.
a Disease of Kugelberg-Welander: clinical features, survival
Spinal atrophy Kugelberg-Welander different from the disease werdnig-Hoffmann what is a relatively benign process. This means that this pathology develops very slowly and gives people the opportunity to live almost until old age. In this case the patient for a long time retains some legal capacity. People with this disorder may move independently, go to work, shopping, etc.
Patients have the possibility of a certain age, while the disease has not spread throughout the body, to bear and to bear children. However, there is a high probability that the violation will be inherited. If one partner is healthy, it also does not guarantee that children will be healthy. Planning of pregnancy in such cases should be accompanied by consultation with a genetics, as pathologically altered chromosomes can be seen when the child is in the early stages of pregnancy.
The Scientist-physician Velander pointed to the fact that the first signs of the disease manifested after the age of two. The peak occurs generally between the second and fifth year of life. However in some people the disease reveals itself much later. This happens in adolescence, even if no problems with the musculoskeletal system were observed.
The First alarming symptoms are the situation, when the child stumbles often, it is difficult to walk up the stairs, when walking or he tucked his knees buckle a little. Later may show scoliosis, a deformity of the chest, hand tremor, cramps of lower extremities.
Initially, the disease affects only the lower limbs. At a later age disturbed motility of the upper body. However, he retains the mobility almost to the very old. The key to a long life in this case is a special physiotherapy, the rejection of sedentary lifestyles and all the bad habits, balanced nutrition, restful sleep, daily walks in the fresh air.
It is Important to remember that the atrophy of Kugelberg is not a reason for total disability. People with such a violation defective, however they can lead normal lifestyle without any help for years from the date of onset of symptoms.
Diagnostics,treatment and prevention of spinal muscular atrophy
To Diagnose spinal muscular atrophy by using biochemical analysis of blood, muscle biopsy and EMG studies. On the basis of the received data is determined by the type of disease, the degree of damage is the prognosis and treatment.
Medical science does not officially pleasant therapeutic techniques aimed at getting rid of spinal muscular atrophy. Scientists from many countries are actively working in this direction and develop new methods of treatment and prevention of neurological disorders.
In the latest research carried out medical scientists came to the conclusion that the treatment is most effectively carried out with the use of sodium butyrate and valproic acid. However, the finished vaccine that has saved patients from pathology, have not yet been developed.
non-drug treatment is based on massage, electrophoresis, moderate physical exercise, regular medical gymnastics.
Such techniques will not eliminate the disease, but will help to reduce the rate of development of pathological processes.
In addition, patients are assigned to certain medications. Nivalin and Neostigmine qualitatively improve the passage of the impulse from the brain to the muscle cells. Actovegin is able to improve blood circulation and accelerate metabolism. This enables the formation of new healthy cells that will slow down the reproduction of pathologically altered structures. Piracetam and Nootropil help to improve blood supply to organs of the Central nervous system.
Prevention of this disease does not exist. The only thing that could help is genetic counseling at the planning stage of pregnancy. The specialist will conduct analysis for the detection of pathogenic cells in the parents. If both parents are carriers of chromosomes with a given violation, the probability of having an affected child is extremely high.