The Journal of Bucharest College of Physicians and the Romanian Academy of Medical Sciences

Current Aspects of Clinical Genetic Diagnosis in Werdnig-Hoffman Spinal Muscular Atrophy


Type I Werdnig-Hoffman spinal muscular atrophy (SMA) is a progressive neuromuscular disease with recessive autosomal transmission characterized by muscular weakness and atrophy caused by degeneration of motor neurons in the spinal cord and in the brainstem nuclei.
In the early 1980s, Werdnig and Hoffman described a disorder with childhood onset that was characterized by progressive muscle weakness. In terms of histopathology, it showed loss of neurons in the previous horns of the spinal cord. (Katirji B, 2002).