Werdnig-Hoffmann's disease: forms and main symptoms

Werdnig-Hoffmann's disease is an extremely serious pathology, which is accompanied by amyotrophy, gradual destruction of the basic nerve fibers of the spinal cord, and, accordingly, muscle atrophy. Immediately it is worth noting that this is a hereditary genetic disease that is transmitted by an autosomal recessive type.

What is Verdnig-Hoffmann's disease?

This neurological disease, accompanied by the 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 condition of the muscles. Nevertheless, for this disease is characterized by the so-called beam injury of the muscles, in which a part of the muscle tissue retains the ability to contract, while the individual "beams" atrophy.

Verdnig-Hoffmann's spinal atrophy manifests itself in childhood. To date, it is common to distinguish three main forms of the disease.

Congenital Werdnig-Hoffmann's disease and its symptoms

As a rule, the first symptoms with a similar form of the disease are visible already in the first days after the birth of the child. The baby has limp paresis of limbs. Cries of sick children are weak and barely audible, in addition, they have disrupted the process of nutrition.

As the child grows, one can see a lag in physical development. Sick children do not hold a head, they can neither sit nor stand. Only in rare cases the baby is able to keep the trunk in an upright position, but this ability also disappears rather quickly as the nerve fibers are destroyed.

In addition, there are some deviations in the development of the skeleton, in particular, hip dysplasia, 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 is rapidly progressing. Atrophy not only suits the skeletal muscles, but also the fibers of the internal organs. Often the diaphragm is affected, which leads to the development of respiratory failure. Unfortunately, children with a similar disease survive (on average) to the age of nine.

Early Werdnig-Hoffmann's disease

The main signs of the disease are manifested in the second half of life. The first few months the child's physical development is quite normal - the baby learns to keep the head and sit down, sometimes even can sit on its own. But all these skills are lost after the activation of the disease. By the way, often the syndrome provokes an infection.

Tremor of the fingers and tendon contractures are the first signs of the destruction of nerve fibers. In the future, atrophy and muscle paralysis develops. The average life expectancy of patients is from 14 to 16 years.

The late form of Verdnig-Hoffmann's disease

Such a disease proceeds more gently. As a rule, the child is quite normal until the age of two. The kid learns to sit, stand and walk. Only in time, parents begin to notice some deviations.

First, the gait of a sick child changes - he walks, heavily bending his knees, often falls, not keeping his balance. As the pathology develops, you can notice some changes in the skeleton, in particular, the deformation of the chest. The syndrome of Verdnig-Hoffmann is characterized by a strong tremor of the hands, a decrease in muscle tone, the disappearance of the basic unconditioned reflexes.

In most cases, by the age of 10-12 the child completely loses the ability to move independently. Nevertheless, in this case, patients survive to 20, and sometimes up to 30 years.