HISTORY OF MEDICINE
|Year : 2018 | Volume
| Issue : 2 | Page : 116-118
“Dystrophia Myotonica” and the legacy of hans gustav wilhelm steinert
Shri Kant Mishra1, Sandeep Singh2, Brian Lee3, Shaweta Khosa4, Negar Moheb5, Vishal A Tandon6
1 Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology, Veterans Affairs Greater Los Angeles Healthcare System; Department of Neurology, Olive View UCLA Medical Center, Sylmar; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, USA
2 Western University of Health Sciences, Pomona, USA
3 Department of Neurology, Veterans Affairs Greater Los Angeles Healthcare System, Sylmar, USA
4 Department of Neurology, Veterans Affairs Greater Los Angeles Healthcare System; Department of Neurology, Olive View UCLA Medical Center, Sylmar, USA
5 Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles; Department of Neurology, Olive View UCLA Medical Center, Sylmar, USA
6 Department of Neurology, Veterans Affairs Greater Los Angeles Healthcare System, Sylmar; University of California, Santa Barbara, USA
|Date of Web Publication||20-Jul-2018|
Prof. Shri Kant Mishra
Department of Neurology, Olive View UCLA Medical Center, 14445 Olive View Drive, Sylmar, California 91342
Source of Support: None, Conflict of Interest: None
| 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.
Keywords: Dystrophia myotonica, Hans Gustav Wilhelm Steinert, myotonic dystrophy type 1, neurologist
|How to cite this article:|
Mishra SK, Singh S, Lee B, Khosa S, Moheb N, Tandon VA. “Dystrophia Myotonica” and the legacy of hans gustav wilhelm steinert. Ann Indian Acad Neurol 2018;21:116-8
|How to cite this URL:|
Mishra SK, Singh S, Lee B, Khosa S, Moheb N, Tandon VA. “Dystrophia Myotonica” and the legacy of hans gustav wilhelm steinert. Ann Indian Acad Neurol [serial online] 2018 [cited 2019 Dec 12];21:116-8. Available from: http://www.annalsofian.org/text.asp?2018/21/2/116/237148
Myotonic dystrophy type 1 (DM1) is the most common form of muscular dystrophy, beginning in adulthood. Since its first description in 1909 by Hans Steinert, our knowledge about DM1 has grown immensely. Dystrophia Myotonica, or DM1, as we know it today, has been the subject of numerous descriptive and experimental studies throughout the world. However, very little is known about the person who actually identified this clinical entity. This review attempts to shed some light on the life of Hans Steinert and provide details of his pioneer works in the field of DM.
Hans Gustav Wilhelm Steinert was born on April 10, 1875, in Dresden, Germany [Figure 1]. He was raised by his father, Otto Steinert, a practicing lawyer and a senior administrative official in the Royal services, and his mother Louise née Westen. Not much is known about his childhood; however, it is estimated that he started his education in 1884, at a grammar school in Dresden. He initially started his professional career studying philosophy in 1893 and eventually entered medicine at the Universities of Leipzig, Freiberg, Kiel, and Berlin. He finished his education in 1898. From September 1898 to July 1899, Hans Steinert started his career at Halle (Saale) as an assistant pathologist to Adolf Seeligmüller, a general practitioner with special interest in neurological disorders. During that time, he also worked with Franz Windscheid, a neuropsychiatrist. Toward the end of 1899, he moved to Dresden, where he started working at Dresden City Hospital under Alfred Fiedler (known for Fiedler's Myocarditis). Later, in April 1901, he was called by Heinrich Curschmann to join the Medical Clinic at Leipzig University.
|Figure 1: Portrait of Hans Gustav Wilhelm Steinert (retrieved from Wikipedia)|
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It was at Leipzig University where Steinert did most of the work that we recognize him for today. He published numerous works on subjects such as aphthongia (1902) and cerebral muscular atrophy (1903)., In December 1904, he filed for habilitation with his thesis: “New contributions on the theory of muscular atrophy in supranuclear paralyses, particularly in cerebral hemiplegia.” Soon after acquiring habilitation on July 12, 1905, he was bestowed with Venia Legendi, the license to teach at Leipzig University. Later that year, Hans Steinert married Else Steinert née Loewenheim, the first female ophthalmologist in Germany, and eventually became a father to two daughters and a son., Steinert was soon promoted to the first assistant to Heinrich Curschmann. He then began his work on understanding myotonic muscle disorders and soon in May 1910, was appointed as an associate professor.
The phenomenon of myotonia has been previously described in isolated case reports by many authors, including E. Hoffman and Hans Curschmann. However, none of them had been able to classify these symptoms into a single condition. In 1909, Hans Steinert published his work titled “About the clinical and anatomical appearance of muscular atrophy in patients with myotonia,” where he was the first to recognize the symptom complex as a distinct disorder which he called “Dystrophien Myotoniker.” His original article included the following 6 cases:
- Case 1: His first patient was a baker with an age of onset at 26 years and no prior family history of myotonia. He suffered progressive muscle stiffness with atrophy and weakness spreading from fingers to arms and involving his face, tongue, and lower extremities. On examination, baldness was observed, along with myopathic face, along with atrophy, weakness, and myotonia in the face, tongue, masseter, and forearm muscles. Areflexia, associated with hypesthesia of fingers and toes, was also observed; however, the sensory deficit disappeared on a reexamination conducted some years later
- Case 2: His second patient had myotonia since childhood. He also had a strong family history with childhood onset of the disorder, with both his father and brother having childhood onset myotonia. At 44 years of age, the patient presented with baldness, myopathic face, ptosis, areflexia, along with weakness and atrophy of muscles. In addition, testicular atrophy was observed
- Case 3: His third patient was a 30-year-old male who presented with all the classical myotonic symptoms. He belonged to a family known to have congenital myotonic dystrophy
- Cases 4 and 5: The next two patients were both brothers exhibiting all the classical features with onset at 24 years of age
- Case 6: His final patient had onset of myotonic symptoms in childhood. Both of his sisters had died before the age of 16, his mother passed away in a psychiatric hospital, and his father died of tuberculosis (TB).
All cases showed characteristic myotonia on mechanical stimulation. Steinert went a step further in his work and reviewed other 26 similar previously reported cases by 19 different authors, from which he was able to determine predilection, symmetry, and usual course of muscle involvement. Furthermore, he discovered that paresis and dystrophy in certain muscles occurred with myotonia in their antagonists. Steinert's work on DM was furthered by Hans Curschmann, son of Heinrich Curschmann, who in 1912 acknowledged this disorder. While giving credit to Hans Steinert for discovering it, he went on further to validate the multiorgan system involvement in DM.
He conducted intensive muscle tests to analyze and fully understand myotonic dystrophy. The death of Steinert's second case in 1905 due to TB gave Steinert the opportunity to prepare the first very comprehensive study of muscle pathology in DM patients. Steinert studied virtually every muscle that was clinically abnormal. Grossly, he observed that the muscles of the hand, especially the thumb bundles, were highly atrophied, similar to the muscles of the forearm. Similarly, on the face, he observed atrophy of the orbicularis, temporalis, and masseters muscles. The muscles of the larynx, sternocleidomastoid, and pectoralis group were also atrophied. In the lower extremities, the quadriceps muscles were slightly atrophied.
Microscopically, all these muscles showed loose, degenerated fibers. Steinert mentions the loss of “contractile substance” with a “leere kern schlauche” (empty nuclear hose) appearance. Muscle cells had a ground glassy appearance, with multiple internal nuclei, increased vacuolations, and lipid accumulations. He also mentions the presence of circular, thick muscle fibers which he called “Kontraktions Knoten” (contraction knots). In addition, there was a massive increase in connective tissue suggestive of muscle fibrosis. Steinert also noted that all the associated nerves showed no abnormalities grossly or microscopically. The gross and microscopic analysis of the brain was completely normal. The spinal column did show some degree of degeneration, especially in the dorsal columns. However, Steinert was unable to explain these changes, which arose possibly from a superimposed anomaly.
Electrodiagnostics were then employed to understand neurological disorders even before the use of oscilloscopes had begun. Thus, these studies observed the physical effects on muscles after electric stimulation. In this context, Steinert correctly inferred that myotonic muscles exhibited tetaniform contractions with minimal stimulus size that outlasted the duration of stimulation. He further observed a “Wurmformige Zuckungen” (worm-like twitching) reaction, which he attributed to a form of myotonic reaction instead of a reaction of degeneration, as it stepped out more clearly with a stronger current and was lost on repetitive provocation. These observations were depictive of myotonic discharges with delayed relaxation.
Steinert's accurate clinical characterization coupled with the first ever autopsy findings laid the foundations of our current understanding about DM1. Clinically, he described dystrophia myotonica (DM1) as found in facial muscles, distal extremities, the larynx, and sternocleidomastoid muscles. Throughout the course of his studies, Steinert discovered that this whole disorder was myopathic or contained solely within the muscular system. By comparing symptoms, he was able to rule out Dejerine–Sottas syndrome and other spinal muscular atrophies that had already been classified. Steinert's basic description of DM1 included DM, along with myotonia following mechanical stimulation of muscles. He also noted the unique properties of myotonic muscles under electrical stimulation and observed testicular atrophy in four patients but was unable to explain its cause (Hans Curschmann later went on to discover the multisystem involvement of DM). Overall, Hans Steinert provided the first clinical description of DM1 and helped pave the road to our current understanding of DM.
Today, DM1 is the most common adulthood-inherited myopathy. However, the rapid pace of recent developments in DM1 is very encouraging. Although Steinert died at very young age, he will always be remembered as a pioneer for defining the symptom complex of dystrophia myotonica. His characterization of the disorder laid the foundation of our current knowledge allowing us to further our insight on DM.
Unfortunately, he became severely ill and passed away on November 3, 1911, at the age of 36. He is believed to have died of adrenal carcinoma. However, some suggest TB as the eventual cause of death. Hans Steinert's obituary from November 5, 1991, in the Leipziger Zeitung reads, “He was remembered by his extensive work as a doctor, but also by his scientific studies, which were acknowledged among his colleagues for the exactness of observation and the stridency of conclusions.” This review is our tribute to the historic achievements of Hans Steinert.
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| References|| |
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