To dystrophin and beyond: an interview with Louis Kunkel.

Louis Kunkel has devoted his career to understanding the causes, mechanisms and treatment of muscular dystrophies. Dr Kunkel is the past Director of the Genomics Program at Boston Children's Hospital and Professor of Genetics and Pediatrics at Harvard Medical School. In this interview, he talks about his discovery of dystrophin, including patients in preclinical research, and bearded irises.

[Muscular dystrophies in literature, cinema and television]. / Las distrofias musculares en la literatura, el cine y la television.

INTRODUCTION: Muscular dystrophies are inherited disorders, produced by a genetic mutation, with a slow or rapid progression, that basically affect striated muscle tissue. There are several clinical forms, the most frequent being Duchenne's muscular dystrophy and Becker muscular dystrophy. AIM: To analyse how muscular dystrophies have been portrayed in literature, cinema and television. DEVELOPMENT: Muscular dystrophy is a disorder that has been reflected in literature, cinema and television. In some cases it is only mentioned, sometimes it plays a secondary role in the plot, and in others it is the lead character who suffers from the disease. In general, reference is made to Duchenne's disease and, albeit less frequently, to Becker muscular dystrophy, although in some cases the patient is just said to be suffering from muscular dystrophy, without specifying what clinical variety it belongs to. Testimonials, novels, comics, fiction films, documentaries, short films and television programmes have all been produced with the aim of making the disease and its implications more widely known, as well as making the public aware of the need to invest resources in research. CONCLUSIONS: Muscular dystrophy has been portrayed quite realistically in literature, cinema and television, and Duchenne's muscular dystrophy is the clinical variety that has been shown most often. Aspects that have been reflected include its symptoms, progression, prognosis, the role of the family and caregivers, sexuality, palliative care, patients' will to overcome difficulties and the need to raise society's awareness of the condition and to invest more resources in research.

TITLE: Las distrofias musculares en la literatura, el cine y la television.Introduccion. Las distrofias musculares son enfermedades hereditarias, producidas por una mutacion genetica, lentas o rapidamente progresivas, que afectan fundamentalmente a la musculatura estriada. Existen diversas formas clinicas, y las mas frecuentes son la distrofia muscular de Duchenne y la distrofia muscular de Becker. Objetivo. Analizar como se han representado las distrofias musculares en la literatura, el cine y la television. Desarrollo. La distrofia muscular ha sido reflejada en la literatura, el cine y la television. En algunos casos solo se menciona, en otros tiene un papel secundario en la trama y en otros es un personaje principal el que sufre la enfermedad. Generalmente se hace referencia a la enfermedad de Duchenne, y con menos frecuencia a la de Becker, aunque en algunos casos solo se menciona que el paciente presenta distrofia muscular, sin especificar a que variedad clinica pertenece. Podemos encontrar obras de testimonio, novelas, comics, largometrajes de ficcion, documentales, cortos y programas televisivos que pretenden dar a conocer la enfermedad y sus implicaciones, y concienciar a la poblacion sobre la necesidad de invertir recursos en la investigacion. Conclusiones. La distrofia muscular ha sido representada con realismo en la literatura, el cine y la television, y la distrofia muscular de Duchenne es la variedad clinica que se ha mostrado mas habitualmente. Se han reflejado los sintomas, la evolucion, el pronostico, el papel de la familia y los cuidadores, la sexualidad, los tratamientos paliativos, el espiritu de superacion, y la necesidad de concienciar a la sociedad y de invertir mas recursos en investigacion.

Las distrofias musculares en la literatura, el cine y la televisión / Muscular dystrophies in literature, cinema and television

Introducción. Las distrofias musculares son enfermedades hereditarias, producidas por una mutación genética, lentas o rápidamente progresivas, que afectan fundamentalmente a la musculatura estriada. Existen diversas formas clínicas, y las más frecuentes son la distrofia muscular de Duchenne y la distrofia muscular de Becker. Objetivo. Analizar cómo se han representado las distrofias musculares en la literatura, el cine y la televisión. Desarrollo. La distrofia muscular ha sido reflejada en la literatura, el cine y la televisión. En algunos casos sólo se menciona, en otros tiene un papel secundario en la trama y en otros es un personaje principal el que sufre la enfermedad. Generalmente se hace referencia a la enfermedad de Duchenne, y con menos frecuencia a la de Becker, aunque en algunos casos sólo se menciona que el paciente presenta distrofia muscular, sin especificar a qué variedad clínica pertenece. Podemos encontrar obras de testimonio, novelas, cómics, largometrajes de ficción, documentales, cortos y programas televisivos que pretenden dar a conocer la enfermedad y sus implicaciones, y concienciar a la población sobre la necesidad de invertir recursos en la investigación. Conclusiones. La distrofia muscular ha sido representada con realismo en la literatura, el cine y la televisión, y la distrofia muscular de Duchenne es la variedad clínica que se ha mostrado más habitualmente. Se han reflejado los síntomas, la evolución, el pronóstico, el papel de la familia y los cuidadores, la sexualidad, los tratamientos paliativos, el espíritu de superación, y la necesidad de concienciar a la sociedad y de invertir más recursos en investigación

Introduction. Muscular dystrophies are inherited disorders, produced by a genetic mutation, with a slow or rapid progression, that basically affect striated muscle tissue. There are several clinical forms, the most frequent being Duchenne's muscular dystrophy and Becker muscular dystrophy. Aim. To analyse how muscular dystrophies have been portrayed in literature, cinema and television. Development. Muscular dystrophy is a disorder that has been reflected in literature, cinema and television. In some cases it is only mentioned, sometimes it plays a secondary role in the plot, and in others it is the lead character who suffers from the disease. In general, reference is made to Duchenne's disease and, albeit less frequently, to Becker muscular dystrophy, although in some cases the patient is just said to be suffering from muscular dystrophy, without specifying what clinical variety it belongs to. Testimonials, novels, comics, fiction films, documentaries, short films and television programmes have all been produced with the aim of making the disease and its implications more widely known, as well as making the public aware of the need to invest resources in research. Conclusions. Muscular dystrophy has been portrayed quite realistically in literature, cinema and television, and Duchenne's muscular dystrophy is the clinical variety that has been shown most often. Aspects that have been reflected include its symptoms, progression, prognosis, the role of the family and caregivers, sexuality, palliative care, patients' will to overcome difficulties and the need to raise society's awareness of the condition and to invest more resources in research

Wilhelm Erb's years in Leipzig (1880-1883) and their impact on the history of neurology.

BACKGROUND: Between 1880 and 1883, the famous German neurologist Wilhelm Erb was appointed Professor of Special Pathology at Leipzig University and Head of the Medical Outpatient Department. SUMMARY: Besides the favourable clinical conditions, it was first and foremost the access to large numbers of patients that enabled him to both establish a new, juvenile form of progressive muscular atrophy and to classify various forms of muscular atrophies already discovered into a new clinical entity which he called dystrophia muscularis progressiva. KEY MESSAGES: His summarising these different forms of muscular atrophies into one group is the most long-lasting outcome of Erb's years in Leipzig. The access to large numbers of different patients at the Medical Outpatient Department, on the one hand, and the dynamics of Leipzig's neurosciences, in particular the so-called 'Leipzig Nervous Circle', on the other, had a lasting impact on Erb and definitely gave him other valuable insights, such as the thought that tabes dorsalis must have been caused by a syphilitic infection.

A brief history of muscular dystrophy research: a personal perspective.

The field of myology has undergone remarkable changes. From the period of early clinical descriptions and clinical classifications, new knowledge of these disorders has come from the developments of histopathology, enzyme histochemistry and later, immunocytochemistry and electron microscopy. These techniques have enhanced the understanding of the pathophysiology of myopathies at the cellular level. The parallel evolution of molecular genetics has taken the science further not only by way of understanding and accuracy of diagnosis, but has opened up exciting possibilities of modulation of these chronic debilitating diseases. This review gives a personal perspective of the developments in the field of myology.

[Fukuyama congenital muscular dystrophy--history and perspectives].

Congenital muscular dystrophy (CMD) is a newly established group of progressive muscular dystrophy, comprising a number of new entities, including Fukuyama congenital muscular dystrophy (FCMD). Victor Dubowitz (1997) wrote that to go back to the "dark ages", when there was still no CMD, we do not need to go back all that far; in the 1960s, many people were not recognizing the existence of CMD or in fact actively denying it. In 1960, Fukuyama and his colleagues published a short report of 15 CMD cases, delineating 9 clinical diagnostic criteria. In 1961, he presented detailed features of 25 cases at a formal national convention of Japanese Society of Neurology, the essence of which was widely approved by Japanese colleagues. The situation in foreign countries was quite different, however; its international recognition as a unique independent entity delayed till early 1980s. Eventually, FCMD was enlisted in MIM as OMIM 253800 in 1986, and in WHO's ICD-10 NA as G71.084 in 1990 for the first time. Toda et al localized a responsible FCMD gene at 9q31-33 in 1993 and identified fukutin gene in 1998. Another revolution took place in 1994, that is, laminin 2 deficiency was first identified in Western CMD patients by Tomé et al in 1994. This discovery gave a great impact to Western investigators, because in Western population, this condition is prevalent while FCMD was practically non-existent. World literature survey revealed that 1,963 articles on CMD had been published since 1893 till 2006, composing from 726 papers contributed by Japanese authors and 1,137 papers by non-Japanese authors. For the period 2001-2006, contribution by non-Japanese authors dramatically increased, occupying 66% of the total. Anyhow, the discovery of FCMD is worth as a historical landmark in dual sense. First, it convinced world authorities the fact the CMD is a real component of the muscular dystrophies family. Second, it provided a new concept on pathogenesis of muscular dystrophies in general, emphasizing multisystemic involvement rather than muscle alone.