Spinal amyotrophy: etiology, symptoms and diagnosis
For the first time, spinal amyotrophy was described in 19century (in 1891 - Verdnig and in 1893 - Goffman). Quite a rare disease that occurs in one person from 100 thousand. The disease refers to genetic ailments and is characterized by the defeat of muscle tissue. These processes are associated with degeneration processes in the neurons of the anterior horns of the spinal cord, as well as motor nuclei of the brain stem. As a rule, the first signs of pathology are manifested in infancy or childhood. Symptoms depend on the type of the disease and can manifest in the form of hypotension, hypoflexia, dysfunction of sucking, breathing and swallowing; in severe cases, this pathology has a lethal outcome. In order to establish a diagnosis, it is necessary to undergo genetic testing.
Spinal amyotrophy: symptoms
The clinical picture will depend on the typedisease. The histological pattern in the muscles, typical of neurogenic (caused by the damage of nerve cells and tissues) amyotrophy - the neighborhood of healthy myocytes and affected. Perhaps the main symptom of the disease is the growing weakness and atrophy of the muscle fiber. Primax proximal parts of extremities are affected first of all. With the development of the disease, other muscle groups are gradually involved in the process. Often patients can observe muscle twitching. Typical signs of pathology are kyphoscoliosis, muscle contracture and respiratory disorders, which is associated with the involvement of intercostal muscles. On the roentgenogram, thinning of long bones (humerus, femoral, etc.) is often revealed.
Verdnig-Hoffmann disease of the first typeis manifested at an early age of up to six months. During this period, the child is registered muscular hypotension, hyporeflexia, and fasciculation of the tongue. A characteristic feature of this type of disease are difficulties in the process of swallowing (dysphagia), sucking, and also breathing. Asphyxia in 95% of cases is the cause of death of children up to one year old. By the four years of 100% death.
Spinal amyotrophy of the second type is manifested in3-15 month of life. When examining a child, there are no deep tendon reflexes, dysphagia is possible. Most children can not crawl and walk, less than 25 percent can sit. Often the illness ends in a fatal outcome.
Spinal amyotrophy of the third type, or diseaseKugelberg-Welander, as a rule, is registered at the age of 15 months to 19 years. The clinic, as in Type I, but the disease progresses more slowly, with a longer life expectancy. Weakness and weight loss begins with the quadriceps femoris and flexors, with time the most pronounced signs appear on the legs. A little later the hands are amazed.
Spinal amyotrophy of the fourth type caninherited, the disease manifests itself in adults aged 30 to 60 years. It is characterized by weakness, weight loss of muscles. This form is very difficult to differentiate from amyotrophic lateral sclerosis.
Spinal amyotrophy of Werdnig-Hoffmannis diagnosed with EMG (determine the speed of nerve conduction, conduct an examination of the muscles that are innervated by the cranial nerves). To confirm the diagnosis, it is necessary to conduct genetic testing, which reveals the etiology of the mutation in 95% of cases. Additional diagnostic methods include muscle biopsy, enzyme activity (aldolase, creatine kinase).
Specific treatment for this disease is notexist. In order to prevent the development of contractures and scoliosis, physiotherapy and corset are prescribed. Special orthopedic adaptations allow the patient to eat, write or work at the computer himself.