Alfred Hauptmann, Siegfried Thannhauser, and an Endangered Muscular Disorder

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Abstract

Alfred Hauptmann (Figure 1), a German neurologist who initially introduced phenobarbital in epilepsy therapy, and Siegfried Thannhauser (Figure 2), an outstanding German metabolism specialist, left Germany during the Nazi regime because of their Jewish origin. Both scientists emigrated to the United States and, in 1941, described a new myopathic entity, 1 later called Hauptmann-Thannhauser muscular dystrophy. Recently, this eponym has largely disappeared from the literature and has been replaced with the term autosomal dominant form of Emery-Dreifuss muscular dystrophy. However, molecular biology as well as more in-depth clinical studies argue that Hauptmann-Thannhauser muscular dystrophy is a distinct entity. On the basis of their discovery and their important contributions in other neurological spheres, we suggest a reinstatement of the term Hauptmann-Thannhauser muscular dystrophy in modern neurological nosology.

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