Spinal amyotrophy was first described in the 19th century (in 1891 by Werdnig and in 1893 by Hoffmann). A rather rare disease that occurs in one person out of 100 thousand. The disease refers to genetic ailments and is characterized by damage to muscle tissue. These processes are associated with degeneration processes in the neurons of the anterior horns of the spinal cord, as well as the motor nuclei of the brain stem. As a rule, the first signs of pathology appear in infancy or childhood. Symptoms depend on the type of disease and can manifest as hypotension, hypoflexia, dysfunction of sucking, breathing and swallowing; in severe cases, this pathology is fatal. In order to establish a diagnosis, it is necessary to undergo genetic testing.
Spinal amyotrophy: symptoms
The clinical picture will depend on the type of disease. The histological picture in the muscles, typical of neurogenic (caused by damage to nerve cells and tissues) amyotrophies, is a neighborhood of healthy and infected myocytes. Perhaps the main symptom of the disease is increasing weakness and atrophy of muscle fiber. The proximal extremities are affected primarily. With the development of the disease, other muscle groups are gradually involved in the process. Often in patients, muscle twitching can be observed . Typical signs of pathology are kyphoscoliosis, muscle contracture and respiratory failure, which is associated with damage to the intercostal muscles. Thinning of long bones (humerus, femur, etc.) is very often detected on the radiograph.
Verdnig-Hoffman disease of the first type manifests itself at an early age up to six months. During this period, the child is recorded muscle hypotension, hyporeflexia, as well as fasciculation of the tongue. A characteristic feature of this type of disease is difficulty in swallowing (dysphagia), sucking, and also breathing. Asphyxia in 95% of cases is the cause of death of children under the age of one year. By four years, 100% death.
Spinal amyotrophy of the second type manifests itself at 3-15 months of life. When examining a child, deep tendon reflexes are absent, dysphagia is possible. Most children cannot crawl and walk; less than 25 percent can sit. Often the disease is fatal.
Spinal amyotrophy of the third type, or Kugelberg-Velander disease, is usually recorded between the ages of 15 months and 19 years. The clinic, as in type I, however, the disease progresses more slowly, with longer life expectancy. Weakness and weight loss begins with the quadriceps femoris and flexors, with time the most pronounced signs appear on the legs. Hands are affected a little later.
The fourth type of spinal amyotrophy can be inherited, the disease manifests itself in adults in the group from 30 to 60 years old. It is characterized by weakness, muscle loss. This form is very difficult to differentiate from amyotrophic lateral sclerosis.
Verdnig-Hoffmann spinal amyotrophy is diagnosed with the help of EMG (determine the speed of nerve conduction, conduct a study of muscles that are innervated by 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, study of enzyme activity (aldolase, creatine kinase).
There is no specific treatment for this disease. In order to prevent the development of contractures and scoliosis, physiotherapy and a corset are prescribed. Special orthopedic appliances enable the patient to eat, write or work at the computer himself.