“Dystrophia Myotonica” and the legacy of hans gustav wilhelm steinert

Abstract

The objective of this analysis is to study the life of Hans Gustav Wilhelm Steinert and his role in identifying several neurologic disorders including myotonic dystrophy (DM). DM type 1 (DM1) is a commonly inherited adult muscle disorder. In 1909, its characteristics were first described by Hans Steinert (1875–1911), a German neurologist. Born in Dresden, Germany, Steinert studied philosophy and medicine at the Universities of Leipzig, Berlin, Freiberg, and Kiel. There, under the supervision of Heinrich Curschmann, he accomplished his own works on aphthongia, cerebral muscular atrophy, and cerebral hemiplegia. In 1909, he published his study on six patients exhibiting characteristic myotonia. With autopsy findings of muscular fibrosis, Steinert identified this independent symptom complex as “Dystrophien Myotoniker” (DM). Overall, Steinert's accurate clinical characterization, coupled with the first ever autopsy finding of this condition, laid the foundations of our current understanding about DM1. This review serves as a tribute to the achievements of Hans Steinert and provides an opportunity to understand the historical perspective of DM1. Information for this analysis was gathered from PubMed and libraries at University of Southern California and University of California, Los Angeles. In addition, personal communications with Professor Benedikt Schoser at The University of Munich, Professor Tiemo Grimm at The University of Wuerzburg, and Professor Peter Harper at The University of Wales are acknowledged.

Cardiac Pathology in Myotonic Dystrophy Type 1

“…The combination of myotonia and cardiac manifestations uniquely defines myotonic dystrophies. In his initial description of DM1 as a clinically distinct disorder, Hans Steinert focused primarily on the skeletal muscle aspects of the disorder [ 10 , 11 ]. Notably, Steinert also reported slowing of the pulse (bradycardia) in some cases.…”

Ocular Features and Clinical Approach to Cataract and Corneal Refractive Surgery in Patients with Myotonic Dystrophy

“…DM1 is commonly known as Steinert’s Myotonic Dystrophy, named after the German neurologist Dr. Hans Gustav Wilhelm Steinert, who first described the disease in 1909. 2 The genetic mutation that causes DM1 was not identified until 1992. 3 Shortly after, the genetic sequence from DM1 patients was compared to a population of individuals believed to have the disease, and it was discovered that this other group of patients had a different genetic mutation.…”