Spinal muscular atrophy (Werdnig-Hoffmann disease)

Spinal muscular atrophy (Werdnig-Hoffmann disease) is a severe progressive disease that develops at early childhood. The key symptom is muscle weakness and atrophy, mostly of the body and proximal segments of the limbs. The disease is hereditary and is transferred in an autosomal recessive fashion. A high percentage of blood relation in the parents is observed. The reduced number and degeneration of the cells of the anterior horns of the spinal cord is detected morphologically. The changes are the most pronounced in the neck and lumbar segments. Clinically, the progressing weakness and muscular atrophy are observed.

The process begins with the trunk muscles and proximal segments of the limbs and symmetrically spreads to other muscle groups. The long muscles of the back are damaged especially often. Frequently, the fasciculations are observed. Neurologically, peripheral paresis and paralysis are noted. Bulbar phenomena can be observed at the terminal stage. The disease starts at the first year of life and by four leads to the death of the child. The age of onset of the disease and its duration are constant in the family. The prognosis is unfavorable. The therapy is symptomatic.