Titre : | On the classification, natural history and treatment of the myopathies |
Revue : | Brain, 77, 2 |
Auteurs : | Walton JN, Auteur ; Nattrass FJ, Auteur |
Type de document : | Article |
Année de publication : | 1954 |
Pages : | p. 169-231 |
Langues: | Anglais |
Mots-clés : | arbre généalogique ; atteinte maxillofaciale ; classification des maladies ; déformation ostéoarticulaire ; douleur ; dystrophie musculaire de Duchenne ; dystrophie musculaire des ceintures ; dystrophie musculaire facio-scapulo-humérale ; dystrophie myotonique de type 1 ; électrocardiographie ; évolution de la maladie ; faiblesse musculaire ; maladie de McArdle ; marche ; mort ; muscle squelettique ; myasthénie auto-immune ; myotonie congénitale de Thomsen ; paramyotonie congénitale d'Eulenburg ; pharmacothérapie ; photographie ; polymyosite ; réflexe tendineux ; scoliose ; scoliose neurologique ; trouble oculaire |
Résumé : |
In this paper a new classification of the myopathies is proposed, based upon a review of the clinical features and natural history of the disease in 105 cases of myopathy of various types. The results of a controlled trial of several forms of treatment in these cases will also be described. The cases to be reviewed will be enumerated and the methods of the investigation detailed when the proposed classification has been considered...
The results of a clinical survey of 105 personal cases of myopathy are reported, with particular reference to the classification and natural history of this group of disorders. An analysis of clinical and genetic data has led to the conclusion that the commonly occurring cases of muscular dystrophy should be classified into three broad groups, the Duchenne, facioscapulohumeral and limbgirdle types. In addition to these three principal divisions, other uncommon forms of myopathy occur which are clinically and genetically distinctive and include the distal, ocular, congenital and local forms as well as certain myopathies of endocrine and metabolic origin and others which appear to be related in some way to the collagen-vascular diseases (the menopausal and benign childhood types). Our observations upon myotonic cases with and without dystrophic features confirm that, despite differences in clinical presentation and course, they all form part of a single disease process. However, there is still ample evidence to show that from the point of view of natural history this single disease process contains three separate clinical syndromes. We feel therefore that the whole should be termed "the myotonic syndrome," while its component entities should be referred to as the dystrophia myotonica, myotonia congenita and paramyotonia forms. Using this classification, our series of cases consists of 48 Duchenne type cases, 15 scapulohumeral, 18 limb-girdle, 2 distal and 1 ocular case, and 21 cases of the myotonic syndrome, 15 of the dystrophia myotonica and 6 of the myotonia congenita forms... ...The results of a trial of treatment in 98 cases are reported; the patients were divided into five groups, selection being made at random save for the fact that each group contained comparable numbers of patients with the various forms of myopathy. A different form of treatment was utilized in each group of cases and every patient was treated for six months. The remedies used were synthetic a-tocopherol, wheat-germ oil, mixed natural tocopherols, nicotinamide and a control substance. Detailed clinical testing of muscular power and certain test movements were carried out in all cases before treatment was begun and were repeated at the end of the course. The observer responsible for making the final clinical assessment was not aware of the type of treatment each patient had received until after the assessment had been made. No case showed objective improvement, and, while a number of patients in each group showed slight subjective improvement, statistical evaluation gave no evidence that any of the remedies utilized had had any significant effect upon the course of the disease. It is concluded that in the present state of knowledge vitamin-E therapy is of no value in the treatment of typical cases of myopathy; patients should be encouraged to move about as much as possible and to take moderate exercise, while frequent active and passive movements of the limb joints should be carried out in order to prevent contractures. |
Pubmed / DOI : | Pubmed : 13190076 / DOI : 10.1093/brain/77.2.169 |