Verdnig – Hoffmann Spinal Amyotrophy

This disease is found in early childhood and is characterized by a malignant course with rapid progression. Depending on the time of the onset of the first symptoms and the rate of increase of the process, three forms of the disease are distinguished: congenital, early childhood and late. Congenital form
may occur even in the prenatal period. In such cases, fetal movement, which was usual at first, becomes weak in the later stages of pregnancy, childbirth can be pathological, and already in the first days after the birth of the child, obvious paresis of muscles with a decrease in muscle tone and a decrease in tendon reflexes are detected. Sometimes complete areflexion is stated. Early bulbar symptoms may occur, manifested by a weak cry, lethargic sucking. In a child, fibrillation in the tongue, a decrease in the pharyngeal reflex, and hypomimia can be detected . Tachycardia is usually noted. Often, the disease is combined with a number of malformations, mental retardation. The course of the disease is very fast, death occurs by 1-l.5 years.

Early childhood form characterized by a slightly milder course compared with congenital. This form is considered classic. The onset of the disease refers to the age of 1.5 years. In most cases, the first symptoms are detected after any infection or food intoxication. A child, who has more or less developed normally, quickly loses previously acquired motor skills, stops walking, standing or sitting. Sluggish paresis first occurs in the legs, then in the muscles of the trunk and arms. The condition worsens relatively quickly, weakness appears in the muscles of the neck, bulbar muscles. By 4-5 years, usually as a result of respiratory failure, pneumonia develops and death occurs. In patients, flaccid paresis is accompanied by the development of tendon contractures. Often there is a general hyperhidrosis .
The late form begins after the age of 1.5-2 years and flows compared with the first two forms easily. Patients up to 10 years of age may retain mobility. The leading symptoms are paresis in the proximal legs, then arms. Muscle atrophies are difficult to detect due to a well-defined subcutaneous fat layer. Tendon reflexes fade away early. Small tremor of the fingers of outstretched hands ( fascicular tremor) is characteristic . Bone deformities are typical, especially in the chest, as well as in the lower extremities. Bulbar symptoms are represented by atrophy of the muscles of the tongue with fibrillar twitching, paresis of the soft palate with a decrease in the pharyngeal reflex. A special variant of Verdnig – Hoffmann spinal atrophy is known – progressive tabloid paralysis or Fazio -Londe disease . The disease often begins at the end of the second year of life, sometimes at a juvenile age, characterized by weakness in the muscles of the face, including chewing muscles, difficulty swallowing, changes in voice, and atrophy in the muscles of the tongue. Ophthalmoplegia may be observed. The disease progresses rapidly, death occurs after 6-12 months from the onset of the first symptoms. Flaccid paresis and paralysis of the extremities can join bulbar disorders, sometimes they do not have time to develop, however, at the autopsy, damage to the cells of the anterior horns of the spinal cord is constantly observed. Family cases of Fazio -Londe disease are described, when the bottom and more of the siblings suffered. The type of hereditary transmission is autosomal recessive. Diagnosis of Verdnig- Hoffmann spinal amyotrophy is based (in addition to the early onset of the disease and the characteristic clinical picture) based on the results of additional research methods, of which electromyography should first be indicated. Almost always, spontaneous bioelectric activity at rest with the presence of fasciculation potentials is detected . With arbitrary contractions, a reduced electrical activity with a “stockade rhythm” is recorded , which indicates synchronization phenomena and an increase in the duration of the potential. A pathomorphological study reveals a decrease in the number of cells in the anterior horns of the spinal cord, degenerative changes in them. Pathological changes are particularly pronounced in the lumbar and cervical thickenings, as well as in the motor nuclei of the cranial nerves. Identified changes in the anterior roots, in the intramuscular sections of the nerve endings. In the latter, there is a disappearance of the normal terminal, their excessive branching. Biochemical studies find changes in carbohydrate metabolism. So, E. A. Savelyeva-Vasilieva (1973) found that glycolysis in patients with spinal amyotrophy of Werdnig-Hoffmann is approaching the embryonic type. Quite often, significant violations are found in creatine-creatinine metabolism – increased creatine excretion in urine, decreased creatinine excretion . It is important to note that the level of enzymes in serum is almost unchanged. Spinal amyotrophy Werdnig – Hoffmann refers to an inherited disease with an autosomal recessive type transmission. The primary biochemical defect is unknown. There is an assumption that a genetic defect leads to an inferior laying of the cells of the anterior horns of the spinal cord, to a violation of their differentiation and to the possible underdevelopment of muscle cholinergic receptors . When establishing a diagnosis of spinal amyotrophy, Werdnig-Hoffmann differentiates with Oppenheim myotonia . According to most researchers, myotopy

Oppenheim is not an independent nosological unit, but a syndrome, the leading manifestation of which is pronounced muscle hypotension. In this regard, the term ” floppy baby ” or “sluggish child” is now widely used . Syndrome of a “lethargic child” is observed in diseases such as congenital muscular dystrophy, benign form of congenital hypotension, rickets, atonic form of cerebral palsy, as well as in transverse spinal cord injury sustained in utero by acute poliomyelitis or polyradiculoneuritis . The syndrome of a “lethargic child” can occur with universal muscle hypoplasia ( Crabbe disease ), with glycogenoses , in particular with type II, or Pompe disease (universal glycogenosis ). Treatment for spinal amyotrophy Werdnig – Hoffmann is reduced to the appointment of massage and exercise therapy, which should be carried out systematically. Radical treatment is not available. Some improvement is provided by such drugs as cerebrolysin , aminalon , anticholinesterase drugs ( proserin , oxazil , galantamine , sanguinarine ), B vitamins. Repeated transfusion of small doses of single-group blood (50 ml 4-5 times) is considered as a general strengthening agent and is shown in expressed stages of the disease.

local_offerevent_note October 26, 2019

account_box admin

Leave a Reply

Your email address will not be published. Required fields are marked *