Werdnig-Hoffmann disease is an extremely severe pathology, which is accompanied by amyotrophy, the gradual destruction of the main nerve fibers of the spinal cord, and, accordingly, muscle atrophy. It is immediately worth noting that this is a hereditary genetic disease that is transmitted in an autosomal recessive manner.
What is Verdnig-Hoffmann disease?
This is a neurological disease, accompanied by a gradual destruction of the main innervating structures of the nervous system. For example, demyelination of the anterior roots of the spinal cord is often observed. In addition, the disease affects some cranial nerves.
Of course, damage to nerve fibers affects the state of muscles. Nevertheless, this disease is characterized by the so-called bundle muscle damage, in which part of the muscle tissue retains the ability to contract, while individual "bundles" atrophy.
Verdnig-Hoffmann spinal atrophy manifests itself in childhood. To date, it is customary to distinguish three main forms of the disease.
Congenital Verdnig-Hoffmann disease and its symptoms
As a rule, the first symptoms of this form of the disease are noticeable in the first days after the birth of the baby. The baby has flaccid paresis of the limbs. The cries of sick children are weak and barely audible, in addition, they have a disturbed nutrition process.
As the child grows, one may notice a lag in physical development. Sick children do not hold their heads, they can neither sit nor stand. Only in rare cases, the baby is able to hold the torso in an upright position, but this ability disappears quite quickly as the nerve fibers break down.
In addition, there are some deviations in the development of the skeleton, in particular, dysplasia of the hip joints, scoliosis, the formation of a funnel-shaped chest, clubfoot, hydrocephalus.
The course of the disease in question is malignant, and the degeneration of nerve endings progresses rapidly. Atrophy yields not only to skeletal muscles, but also fibers of internal organs. The diaphragm is often affected, which leads to the development of respiratory failure. Unfortunately, children with a similar disease survive (on average) until they are nine years old.
Early Verdnig-Hoffmann disease
The main signs of the disease appear in the second half of life. The first few months, the child’s physical development is quite normal - the baby learns to hold its head and sit down, sometimes it can even sit on its own. But all these skills are lost after the activation of the disease. By the way, the syndrome often provokes an infection.
Finger tremors and tendon contractures are the first symptoms of destruction of nerve fibers. In the future, atrophy and muscle paralysis develops. The average life expectancy of patients is from 14 to 16 years.
Late form of Verdnig-Hoffmann disease
A similar disease is milder. As a rule, a child develops quite normally until the age of two. The kid learns to sit, stand and walk. Only with time, parents begin to notice some deviations.
First, the gait of a sick child changes - he walks, bending his legs strongly in his knees, often falls, not maintaining balance. As the pathology develops, some changes in the skeleton can be noticed, in particular, chest deformation. Werdnig-Hoffmann syndrome is characterized by a strong tremor of the hands, a decrease in muscle tone, the disappearance of the main unconditioned reflexes.
In most cases, by 10-12 years the child completely loses the ability to move independently. However, in this case, patients live up to 20, and sometimes up to 30 years.