The progressive atrophy of muscle, werdnig-Hoffmann

Refers to the earliest form of system-degenerative diseases of childhood. First described by Vardnica (G. Werdnig) and Hoffmann (J. Hoffmann). At present there is clear clinical characteristics of the disease, while the etiology and pathogenesis of it remain unknown. The disease has a genetic origin with an autosomal recessive type of transmission (see Genetics). Of interest is the fact, that ill in the family children are often of the same sex. The pathomorphology of the disease is reduced to degenerative changes of the cells of the anterior horns of the spinal cord with secondary degeneration of motor fibers front roots and peripheral nerves and beam atrophy of the affected muscle groups.
Sick in the first year and even in the first months of postnatal life. In severe cases, children are born with the disorder movements, and celebrate mother during pregnancy weakness of perturbations of the fetus. There hypotonia muscles. Atrophic process starts with the proximal limbs and gradually extends to the muscles. Saved often active movement of the diaphragm and distal muscles.
Notes spilled areflexia. Children usually do not crawl and often not even sit. Develop kyphoscoliosis, and secondary contracture (Fig. 8). Muscular atrophy accompanied by the reaction of rebirth. Available fibrillar twitching in children is difficult to detect due to well developed they subcutaneous fat layer, which often covers and atrophy. The sensitivity and sphincter are not affected. Intellect is saved completely. The disease progresses steadily and leads to death within the first years of life, often from acceding pneumonia or other intercurrent infections.
Along with the availability of early forms of muscle atrophy of werdnig - Hoffmann at the present time, are described and the relatively late start of the form, flowing more easily. The distribution of paralysis and muscle atrophy is responsible here proximal-type, but the data biopsy and electromyography show that they depend on disorders of the peripheral motor neuron. For mild atrophy of werdnig - Hoffmann is, according to modern views, and congenital myotonia Oppenheim (see Myotonia).
Differential diagnosis, despite the stereotype clinic, hard. A similar pattern is observed in early forms of child myopathy, and of some congenital defects of glycogen and lipid exchange, which also can affect the cells of the anterior horn. Due to the impossibility because of age to investigate the sensitivity difficult diagnosis with polyneuritis infectious nature. Effective therapy is available. The use of vitamin therapy, adenosine triphosphate, Nevolina, pahikarpin, and blood transfusion gives only temporary relief.

Fig. 8. Kyphoscoliosis muscular atrophy type of werdnig - Hoffmann.