Molecular Genetics and Metabolism 113 (2014) 241–242
Contents lists available at ScienceDirect
Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme
Commentary
Duchenne or Meryon muscular dystrophy? Emmanuel Drouina, Yann Péréon b,c,⁎ a b c
Centre d'Etudes Supérieures de la Rennaissance, Université François Rabelais, Tours, France Centre de Référence Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France Atlantic Gene Therapy Institute, Nantes, France
A R T IC L E
IN F O
Article history: Received 7 September 2014 Received in revised form 25 September 2014 Accepted 25 September 2014 Available online 2 October 2014 Keywords: Duchenne Muscular Dystrophy Meryon
We read with interest the recent paper by Pillers [10]. Part of it is dedicated to a brief reminder of Duchenne Muscular Dystrophy (DMD) identification. The dispute between Meryon and Duchenne is still present, about 130 years after their death. Nonetheless, the history of diseases is often not so Manichaean and their characterization is part of a long process, taking sometimes over decades. The description of DMD is linked to the issue of sharing between muscle- and nervous diseases. The history of DMD officially started in the 1840s, in particular due to the work of Guillaume Duchenne de Boulogne. It is known that Duchenne himself hesitated for a long time before arriving to a better description of the disease. However, at that time, Duchenne was neither the only one nor the first one interested in these paralyses. In 1817, Pierre Eloy Fouquier was the royal physician for the French kings Louis-Philippe and Charles X. He was the successor of Corvisart and of René Théophile Laënnec at the Hôpital de la Charité in Paris. Fouquier described different paralyses in an unpublished manuscript and used the term paralyzed with fatty muscle degeneration with atrophy [7]. Fouquier was likely to be the first one to use this term, although without real clinical description in children; this term was taken over by Duchenne, who actually worked later (1847) as a resident in the same hospital. At that time, paralyses of peripheral origin were being deciphered: in September 1850, Aran published a memoir about a new disease, which he called “progressive muscular atrophy” [1]. It corresponded to what Duchenne had called “progressive general palsy” one year before with an onset affecting the lower limbs, disease affecting the lower motor neuron. Later, Cruveilhier linked the lesion to the spinal ⁎ Corresponding author at: Centre de Référence Maladies Neuromusculaires NantesAngers, Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, F-44093 Nantes cedex, France. Fax: +33 240 083 619. E-mail address: [email protected] (Y. Péréon).
http://dx.doi.org/10.1016/j.ymgme.2014.09.008 1096-7192/© 2014 Elsevier Inc. All rights reserved.
roots [2]. In 1851, Meryon was very impressed by the predilection for males and the familial context in 8 patients with muscle disease [9]. It is interesting to notice that Fouquier, who performed autopsies of his patients, did not try to precisely assess the fatty muscular deposit location, as Meryon did a few years later. Soon after Meryon, Duchenne claimed authorship of this description of a myopathic process responsible for muscle atrophy with fatty degeneration [3]. In 1868, Duchenne enlightened us about this controversy going on with Meryon [4], formerly stating that the loss of the contractility was due to a muscle lesion and rather than a spinal cord or nerve lesion. Pillers states in her manuscript [10] that Duchenne was the first person to use electricity in medicine. He actually occasionally used it for treating patients [3]. But apart from Duchenne muscular dystrophy, he is indeed famous for his pictures of patients having electrical stimulation of facial muscles: Duchenne wanted to reproduce various emotions by using electricity [5]. He had been impressed by the work of Haller who perceived muscular excitability [8]. Interestingly, Fouquier also treated muscle paralysis due to saturnism with galvanism, about 40 years before Duchenne [6]. In his manuscript, Fouquier indicated: “Electricity as a remedy one could rely upon. It is successful when the paralysis does not affect the brain, it is convenient for all local paralyses. One sets up one conductor as close as possible to the nerve providing activity to the limb and the other one on a distant site of the limb. One can improve the effect of galvanism by using saline solution with potassium carbonate or caustic soda or by moistening the limb with water”. Thus, DMD identification was made possible by successive new ways of perceiving, over several decades. No doubt that both Meryon and Duchenne brought significant contribution to muscular dystrophy. With his stubbornness, Duchenne certainly was the one who went to the bottom of it. Still, identifying the conditions that will make new treatments possible is certainly better than distributing the merits. DMD remains a challenge. References [1] F.A. Aran, Recherches sur une maladie non encore décrite du système musculaire (atrophie musculaire progressive), Arch. Gén. Méd. 84 (1850) (5–35 & 172–214). [2] J. Cruveilhier, Sur la paralysie musculaire progressive atrophique, Arch. Gén. Méd. 1 (1853) 561–603. [3] G. Duchenne de Boulogne. De l'électrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique. Paris: JB Baillière (1855, 2nd edition 1862). [4] G. Duchenne (de Boulogne), De la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérotique, Asselin, Paris, 1868.
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[5] G. Duchenne de Boulogne. Mécanisme de la Physionomie Humaine ou Analyse Electro-physiologique de l'Expression des Passions applicable à la Pratique des Arts Plastiques. Paris: Renouard (1862), 2nd edition Paris: JB Baillière (1876). [6] P.E. Fouquier, D'une paralysie causée par le plomb et guérie par le galvanisme, J. Méd. Chir. Pharm. 17 (1809) 3–7. [7] P.E. Fouquier. Cours complet de médecine rédigé par Gauthier, unpublished manuscript (1817–18), in-8 format, 881 pages.
[8] A. Von Haller, Dissertation sur les parties irritables et sensibles des animaux, MarcMichel Bousquet et Cie, Lausanne, 1755. [9] E. Meryon, On fatty degeneration of the voluntary muscles (report of the Royal Medical and Chirurgical Society), Lancet 2 (1851) 588–589. [10] D.A. Pillers, A new day for Duchenne's? The time has come for newborn screening, Mol. Genet. Metab. (2014), http://dx.doi.org/10.1016/j.ymgme.2014.06.001.
Contents lists available at ScienceDirect
Molecular Genetics and Metabolism journal homepage: www.elsevier.com/locate/ymgme
Commentary
Duchenne or Meryon muscular dystrophy? Emmanuel Drouina, Yann Péréon b,c,⁎ a b c
Centre d'Etudes Supérieures de la Rennaissance, Université François Rabelais, Tours, France Centre de Référence Maladies Neuromusculaires Nantes-Angers, CHU de Nantes, Nantes, France Atlantic Gene Therapy Institute, Nantes, France
A R T IC L E
IN F O
Article history: Received 7 September 2014 Received in revised form 25 September 2014 Accepted 25 September 2014 Available online 2 October 2014 Keywords: Duchenne Muscular Dystrophy Meryon
We read with interest the recent paper by Pillers [10]. Part of it is dedicated to a brief reminder of Duchenne Muscular Dystrophy (DMD) identification. The dispute between Meryon and Duchenne is still present, about 130 years after their death. Nonetheless, the history of diseases is often not so Manichaean and their characterization is part of a long process, taking sometimes over decades. The description of DMD is linked to the issue of sharing between muscle- and nervous diseases. The history of DMD officially started in the 1840s, in particular due to the work of Guillaume Duchenne de Boulogne. It is known that Duchenne himself hesitated for a long time before arriving to a better description of the disease. However, at that time, Duchenne was neither the only one nor the first one interested in these paralyses. In 1817, Pierre Eloy Fouquier was the royal physician for the French kings Louis-Philippe and Charles X. He was the successor of Corvisart and of René Théophile Laënnec at the Hôpital de la Charité in Paris. Fouquier described different paralyses in an unpublished manuscript and used the term paralyzed with fatty muscle degeneration with atrophy [7]. Fouquier was likely to be the first one to use this term, although without real clinical description in children; this term was taken over by Duchenne, who actually worked later (1847) as a resident in the same hospital. At that time, paralyses of peripheral origin were being deciphered: in September 1850, Aran published a memoir about a new disease, which he called “progressive muscular atrophy” [1]. It corresponded to what Duchenne had called “progressive general palsy” one year before with an onset affecting the lower limbs, disease affecting the lower motor neuron. Later, Cruveilhier linked the lesion to the spinal ⁎ Corresponding author at: Centre de Référence Maladies Neuromusculaires NantesAngers, Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, F-44093 Nantes cedex, France. Fax: +33 240 083 619. E-mail address: [email protected] (Y. Péréon).
http://dx.doi.org/10.1016/j.ymgme.2014.09.008 1096-7192/© 2014 Elsevier Inc. All rights reserved.
roots [2]. In 1851, Meryon was very impressed by the predilection for males and the familial context in 8 patients with muscle disease [9]. It is interesting to notice that Fouquier, who performed autopsies of his patients, did not try to precisely assess the fatty muscular deposit location, as Meryon did a few years later. Soon after Meryon, Duchenne claimed authorship of this description of a myopathic process responsible for muscle atrophy with fatty degeneration [3]. In 1868, Duchenne enlightened us about this controversy going on with Meryon [4], formerly stating that the loss of the contractility was due to a muscle lesion and rather than a spinal cord or nerve lesion. Pillers states in her manuscript [10] that Duchenne was the first person to use electricity in medicine. He actually occasionally used it for treating patients [3]. But apart from Duchenne muscular dystrophy, he is indeed famous for his pictures of patients having electrical stimulation of facial muscles: Duchenne wanted to reproduce various emotions by using electricity [5]. He had been impressed by the work of Haller who perceived muscular excitability [8]. Interestingly, Fouquier also treated muscle paralysis due to saturnism with galvanism, about 40 years before Duchenne [6]. In his manuscript, Fouquier indicated: “Electricity as a remedy one could rely upon. It is successful when the paralysis does not affect the brain, it is convenient for all local paralyses. One sets up one conductor as close as possible to the nerve providing activity to the limb and the other one on a distant site of the limb. One can improve the effect of galvanism by using saline solution with potassium carbonate or caustic soda or by moistening the limb with water”. Thus, DMD identification was made possible by successive new ways of perceiving, over several decades. No doubt that both Meryon and Duchenne brought significant contribution to muscular dystrophy. With his stubbornness, Duchenne certainly was the one who went to the bottom of it. Still, identifying the conditions that will make new treatments possible is certainly better than distributing the merits. DMD remains a challenge. References [1] F.A. Aran, Recherches sur une maladie non encore décrite du système musculaire (atrophie musculaire progressive), Arch. Gén. Méd. 84 (1850) (5–35 & 172–214). [2] J. Cruveilhier, Sur la paralysie musculaire progressive atrophique, Arch. Gén. Méd. 1 (1853) 561–603. [3] G. Duchenne de Boulogne. De l'électrisation localisée et de son application à la physiologie, à la pathologie et à la thérapeutique. Paris: JB Baillière (1855, 2nd edition 1862). [4] G. Duchenne (de Boulogne), De la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérotique, Asselin, Paris, 1868.
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E. Drouin, Y. Péréon / Molecular Genetics and Metabolism 113 (2014) 241–242
[5] G. Duchenne de Boulogne. Mécanisme de la Physionomie Humaine ou Analyse Electro-physiologique de l'Expression des Passions applicable à la Pratique des Arts Plastiques. Paris: Renouard (1862), 2nd edition Paris: JB Baillière (1876). [6] P.E. Fouquier, D'une paralysie causée par le plomb et guérie par le galvanisme, J. Méd. Chir. Pharm. 17 (1809) 3–7. [7] P.E. Fouquier. Cours complet de médecine rédigé par Gauthier, unpublished manuscript (1817–18), in-8 format, 881 pages.
[8] A. Von Haller, Dissertation sur les parties irritables et sensibles des animaux, MarcMichel Bousquet et Cie, Lausanne, 1755. [9] E. Meryon, On fatty degeneration of the voluntary muscles (report of the Royal Medical and Chirurgical Society), Lancet 2 (1851) 588–589. [10] D.A. Pillers, A new day for Duchenne's? The time has come for newborn screening, Mol. Genet. Metab. (2014), http://dx.doi.org/10.1016/j.ymgme.2014.06.001.
