Diagnostic investigation in the Werdnig-Hoffmann Syndrome

Abstract

SUMMARY From a report concerning a case of Werdnig-Hoffmann Syndrome, the most severe form of Spinal Amyotrophy (type I), the aspects of the Diagnostic Investigation of such Syndrome are discussed The spinal muscle atrophies are hereditary neuromuscular diseases characterized by the degeneration of the upper motoneurons, lower motoneurons or both and transmitted according to the recessive autosomic Mendelian standard. The Werdnig-Hoffmann Syndrome occurs together with hypotonia, atrophy and muscular debility and reduction or absence of the osteotendinous reflexes. The treatment is symptomatic and very restricted. In the majority of cases the patients die during the first year of life, due to respiratory collapse. The report illustrates the importance of following the procedures used in the clinical diagnostic. DESCRIPTORS Spinal Muscular Atrophies in Childhood. Demyelinizing Diseases. Spinal Cord Diseases.