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Hypermobility of Joints Springer-Verlag London Ltd. Peter Beighton, Rodney Grahame and Howard Bird Hypermobility of Joints Third Edition With 73 Figures Springer PPeetteerr BBeeiigghhttoonn,, MMDD,, PPhhDD,, FFRRCCPP,, FFRRCCPPCCHH,, FFRRSSSSAA DDeeppaarrttmmeenntt ooff HHuummaann GGeenneettiiccss,, UUnniivveerrssiittyy ooff CCaappee TToowwnn MMeeddiiccaall SScchhooooll,, OObbsseerrvvaattoorryy 77992255,, CCaappee TToowwnn,, SSoouutthh AAffrriiccaa RRooddnneeyy GGrraahhaammee,, CCBBEE,, MMDD,, FFRRCCPP,, FFAACCPP HHyyppeerrmmoobbiilliittyy CClliinniicc,, UUCCLL HHoossppiittaallss,, 4400--5500 TTootttteennhhaamm SSttrreeeett,, LLoonnddoonn WWIIPP 99PPGG,, UUKK HHoowwaarrdd BBiirrdd,, MMAA,, MMDD,, FFRRCCPP CClliinniiccaall PPhhaarrmmaaccoollooggyy UUnniitt,, UUnniivveerrssiittyy ooff LLeeeeddss,, CChhaappeell AAlllleerrttoonn HHoossppiittaall,, CChhaappeellttoowwnn RRooaadd,, LLeeeeddss,, WWeesstt YYoorrkksshhiirree,, LLSS77 44SSAA,, UUKK CCoovveerr iilllluussttrraattiioonn:: MMooddeell ooff aa ssttaattuueettttee ddeeppiicettiinngg aann EEttrruussceaann aacerroobbaatt ooff tthhee sseeccoonndd eceennttuurryy BBCe ((oorriiggiinnaall aatt tthhee BBrriittiisshh MMuusseeuumm,, LLoonnddoonn)) IISSBBNN 997788--11--44447711--33663355--44 IISSBBNN 997788--11--44447711--33663333--00 ((eeBBooookk)) DOI 10.1007/978-1-4471-3633-0 BBrriittiisshh LLiibbrraarryy CCaattaalloogguuiinngg iinn PPuubblliiccaattiioonn DDaattaa BBeeiigghhttoonn,, PPeetteerr HHyyppeerrmmoobbiilliittyy ooff jjooiinnttss.. --33rrdd eedd.. II.. JJooiinnttss -- HHyyppeerrmmoobbiilliittyy II.. TTiittllee 1II1.. GGrraahhaammee,, RRooddnneeyy,, 11993322-- IIIIII.. BBiirrdd,, HH.. AA.. ((HHoowwaarrdd AAnntthhoonnyy)) ,, 11994455-- 661166..77''22 LLiibbrraarryy ooff CCoonnggrreessss CCaattaalloogguuiinngg--iinn--PPuubblliiceaattiioonn DDaattaa BBeeiigghhttoonn,, PPeetteerr.. HHyyppeerrmmoobbiilliittyy ooff jjooiinnttss II PPeetteerr BBeeiigghhttoonn,, RRooddnneeyy GGrraahhaammee,, aanndd HHoowwaarrdd BBiirrdd.. --33rrddeedd.. pp.. ecmm.. IInncclluuddeess bbiibblliiooggrraapphhiiecaall rreeffeerreenneceess aanndd iinnddeexx.. II.. JJooiinnttss--HHyyppeerrmmoobbiilliittyy.. II.. GGrraahhaammee,, RRooddnneeyy,, 11993322-- 1II1.. BBiirrdd,, HH.. AA.. ((HHoowwaarrdd AAnntthhoonnyy)),, 11994455-- .. IIIlIl.. TTiittllee.. [[DDNNLLMM:: II.. JJooiinntt IInnssttaabbiilliittyy.. WWEE 330044 BB442222hh 11999999]] RRCC993322..BB4455 11999999 661166..77''22--ddce2211 DDNNLLMMI/DDLLCC 9999--1100445533 ffoorr LLiibbrraarryy ooff CCoonnggrreessss CCIIPP AAppaarrtt ffrroomm aannyy ffaaiirr ddeeaalliinngg ffoorr tthhee ppuurrppoosseess ooff rreesseeaarrcchh oorr pprriivvaattee ssttuuddyy,, oorr ccrriittiicciissmm oorr rreevviieeww,, aass ppeerrmmiitttteedd uunnddeerr tthhee CCooppyyrriigghhtt,, DDeessiiggnnss aanndd PPaatteennttss AAcett 11998888,, tthhiiss ppuubblliiceaattiioonn mmaayy bbee rreepprroodduuceeedd,, ssttoorreedd oorr ttrraannssmmiitttteedd,, iinn aannyy ffoorrmm oorr bbyy aannyy mmeeaannss,, wwiitthh tthhee pprriioorr ppeerrmmiissssiioonn iinn wwrriittiinngg ooff tthhee ppuubblliisshheerrss,, oorr iinn tthhee ecaassee ooff rreepprrooggrraapphhiice,, rreepprroodduuccttiioonn iinn aaceccoorrddaannceee wwiitthh tthhee tteerrmmss ooff lliicceennsseess iissssuueedd bbyy tthhee CCooppyyrriigghhtt LLiicceennssiinngg AAggeennccyy.. EEnnqquuiirriieess ccoonncceerrnniinngg rreepprroodduuccttiioonn oouuttssiiddee tthhoossee tteerrmmss sshhoouulldd bbee sseenntt ttoo tthhee ppuubblliisshheerrss.. ©© SSpprriinnggeerr--VVeerrllaagg LLoonnddoonn 11999999 OOrriiggiinnaallllyy ppuubblliisshheedd bbyy SSpprriinnggeerr--VVeerrllaagg LLoonnddoonn LLiimmiitteedd iinn 11999999.. SSooffttccoovveerr rreepprriinntt ooff tthhee hhaarrddccoovveerr 33rrdd eeddiittiioonn 11999999 FFiirrsstt ppuubblliisshheedd 11998833;; SSeeccoonndd eeddiittiioonn 11998899 TThhee uussee ooff rreeggiisstteerreedd nnaammeess,, ttrraaddeemmaarrkkss,, eettcc.. iinn tthhiiss ppuubblliiceaattiioonn ddooeess nnoott iimmppllyy,, eevveenn iinn tthhee aabbsseennccee ooff aa ssppeecciiffiicc ssttaatteemmeenntt,, tthhaatt ssuucchh nnaammeess aarree eexxeemmpptt ffrroomm tthhee rreelleevvaanntt llaawwss aanndd rreegguullaattiioonnss aanndd tthheerreeffoorree ffrreeee ffoorr ggeenneerraall uussee.. PPrroodduucctt lliiaabbiilliittyy:: TThhee ppuubblliisshheerr ccaann ggiivvee nnoo gguuaarraanntteeee ffoorr iinnffoorrmmaattiioonn aabboouutt ddrruugg ddoossaaggee aanndd aappppllii ccaattiioonn tthheerreeooff ccoonnttaaiinneedd iinn tthhiiss bbooookk.. IInn eevveerryy iinnddiivviidduuaall ccaa ssee tthhee rreessppeeccttiivvee uusseerr mmuusstt cchheecckk iittss aaccccuurraaccyy bbyy ccoonnssuullttiinngg ootthheerr pphhaarrmmaacceeuuttiiccaall lliitteerraattuurree.. TTyyppeesseett bbyy EEXXPPOO HHoollddiinnggss,, MMaallaayyssiiaa 2288//33883300--554433221100 PPrriinntteedd oonn aacciidd--ffrreeee ppaappeerr SSPPIINN 1100771100006633 Foreword to the Third Edition Ten years after the Second Edition and 16 years after the First Edition of this monograph (1983), I am called upon again to give blessing and introduction to the 6-year extension, even hyperextension, of the authors' collective wisdom in the field of joint hypermobility. Sciences advances, and clearly the coverage and content has changed. Parts of the manuscript are retained to give continuity of reference but over half is new, a smaller print size allowing retention of early seminal references (including my own written with Barbara Ansell and the late Julian Kirk in 1967), as well as incorporation of the many new in this intriguing and proliferating field. It must give much satisfaction to the triumvirate of authors that their basic clinical classifications still cor relate well with the aberrant genes and structural abnormalities in collagen and other proteins responsible for these diverse conditions, identified through the recent rapid advances in molecular biology. The excellent chapter by Karl Kadler, a new contributor, leads the reader skilfully through this important area of science. Genetic engineering producing cure, hinted at in the last edition, still eludes us but may not be far away whilst the implications of the unravelling of these rare conditions, for the pathogenesis of more common conditions including osteoarthritis, are substantial. Amidst the scholarship and practical advice (some of it still slightly contentious and to be further researched) we glimpse one of the justi fications and attractions of work in this field. The chapter devoted to joint laxity and the performing arts, retained and expanded, continues to intrigue as a clinical contrast to the scientific chapters in this field. Although each of the three editors has now had the opportunity to take responsibility for a separate edition, it is to be hoped that this will not be the last and that the monograph will serve to fuel the inter est of future generations of rheumatologists, and others, in this area. Reference Kirk JH, Ansell BM, Bywaters EGL (1967) The hypermobility syndrome. Ann Rheum Dis 26: 419-425 April 1999 E.G.L. Bywaters CBE, FRCP, FACP, FRCP (Canada) Emeritus Professor of Rheumatology Royal Postgraduate Medical School of London v Contents 1. Introduction to Hypermobility. . . . . . . . . . . . . . . . . . . . . . . . . . 1 Historical Background ................................ . Development of Concepts Concerning Rheumatological Manifestations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 2 Extra-articular Manifestations of Hypermobility. . . . . . . . . . . 2 Late Effects of Hypermobility . . . . . . . . . . . . . . . . . . . . . . . . . . . 3 Measurement oOoint Hypermobility . . . . . . . . . . . . . . . . . . . . 3 Syndromic Associations oOoint Hypermobility . . . . . . . . . . . 4 Nosology of the Hypermobility Syndromes. . . . . . . . . . . . . . . 4 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 6 2. Assessment of Hypermobility. . . . . . . . . . . . . . . . . . . . . . . . . . . 9 Simple Scoring Systems for Hypermobility. . . . . . . . . . . . . . . . 9 General Principles of More Precise Measurement at Selected Joints. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 12 Back and Spinal Mobility. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 Rotation in the Limbs. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 15 Movement at the Metacarpophalangeal Joint. . . . . . . . . . . . . . 16 Correlations Between Scoring Systems Used in Assessing Joint Laxity... .. ....... .... .. .. ..... .. .. . 16 Variation 00 oint Laxity Within Populations. . . . . . . . . . . . . . 18 Clinical Applications of Scoring Systems ................. 19 Joint Hypolaxity. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 20 3. The Molecular Basis ofJoint Hypermobility . . . . . . . . . . . . . . 23 Introduction. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 23 Fibrillar Collagen Types I and V in the Ehlers-Danlos Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 24 Molecular Structure of Fibril-forming Collagens. . . . . . . . . 24 Genes Encoding Types I and V Collagens. . . . . . . . . . . . . . . 25 Biosynthesis (Intracellular events). . . . . . . . . . . . . . . . . . . . . 26 Fibril Assembly (Extracellular Events) ................. 26 Mutations Causing the EDS Types I and II . . . . . . . . . . . . . . 29 Mutations Causing the EDS Type VII A, B, and C . . . . . . . . 29 Joint Laxity Associated with Mutations in Fibrillin-l and -2 34 Conclusions. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34 Acknowledgements. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 34 vii viii Contents 4. Biomechanics of Hypermobility: Selected Aspects. . . . . . . . . 39 Mechanical Factors in Joint Mobility. . . . . . . . . . . . . . . . . . . . . 40 Relative Contributions of Different Factors. . . . . . . . . . . . . 40 Bony Surfaces. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 40 Collagen. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Neuromuscular Control. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Proprioception . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44 Lubrication and Stiffness. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 44 Lubrication of the Synovial Membrane ................ 44 Measurement of Stiffness. . . . . . . . . . . . . . . . . . . . . . . . . . . . 45 ArtificialLubricants. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 46 Hypermobility and Osteoarthritis ....................... 46 Prospects for Surgical Intervention. . . . . . . . . . . . . . . . . . . . . . 48 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 49 5. Clinical Features of Hypermobility: Locomotor System and Extra-articular. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 53 Hypermobility in Adults. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 54 Prevalence. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 54 Role of Lax Ligaments. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 54 Clinical Manifestations . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 54 Articular Features. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 55 Non-articular Manifestations of Hypermobility .. .. .. .. . 61 Hypermobility in Children. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66 Epidemiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 66 Clinical Presentation in Childhood. . . . . . . . . . . . . . . . . . . . 66 Hypermobility and Motor Development. . . . . . . . . . . . . . . 70 Hypermobility in the Elderly. . . . . . . . . . . . . . . . . . . . . . . . . . . . 70 Petechiae and Ecchymoses. . . . . . . . . . . . . . . . . . . . . . . . . . . 71 Acquired Hypermobility . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 71 Isolated Acquired Hypermobility . . . . . . . . . . . . . . . . . . . . . 71 Generalised Acquired Hypermobility. . . . . . . . . . . . . . . . . . 72 Hypermobility and the Arthritides. . . . . . . . . . . . . . . . . . . . . . . 73 Ankylosing Spondylitis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 73 Rheumatoid Arthritis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 73 Osteoarthritis. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 76 Fibromyalgia. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 76 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 77 6. Management of Articular Complications in the Hypermobility Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 81 General Management. .. .. .......... .. ......... .. .. .. .. 81 Specific Management . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 82 Rest...................... ...... .. .. ............... 82 Local Steroid Injection. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 82 Physiotherapy. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 83 Podiatry. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 88 Surgical Intervention. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 89 Symptomatic Treatment. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 93 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 96 Contents IX 7. Illustrative Case Histories. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 99 8. Hypermobility in the Performing Arts and Sport. . . . . . . . . . 125 Dancers. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 125 Are Ballet Dancers Born or Made? . . . . . . . . . . . . . . . . . . . . 125 Is Generalised Joint Laxity an Asset or a Liability in Ballet Dancing? . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .. 126 The Prevention ofInjury... ................ .......... 130 Contortionists. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 130 Historical Background. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 130 Nosology and Semantics........................ .. ... 131 Training. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 131 Sociomedical Implications. . . . . . . . . . . . . . . . . . . . . . . . . .. 132 Musicians. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 133 Occupational Ills ofInstrumentalists . . . . . . . . . . . . . . . . . . 134 Illustrative Case Histories. . . . . . . . . . . . . . . . . . . . . . . . . . .. l35 Repetitive Strain Syndrome. . . . . . . . . . . . . . . . . . . . . . . . . . 138 Sport. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 139 Joint Hypermobility in Selected Sports. . . . . . . . . . . . . . . . . 140 Hypermobility and Injury... ..................... .... 141 Training Methods to Improve Joint Flexibility. . . . . . . . . . 142 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143 Ballet Dancers. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143 Musicians. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 143 Sport....................................... .. .. ... 144 9. Heritable Hypermobility Syndromes ................ . . . . 147 Ehlers-Danlos Syndrome.................. .. .. .. .. ... .. 147 GeneraIFeatures .................................... 147 Nosology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 149 Articular Manifestations. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 150 Orthopaedic Management of Articular Problems...... .. 156 Non-articular Complications. . . . . . . . . . . . . . . . . . . . . . . . . 157 Familial Articular Hypermobility Syndromes ............. 158 Nosology. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 159 Articular Complications. . . . . . . . . . . . . . . . . . . . . . . . . . . . . 160 Other Phenotypic Manifestations. . . . . . . . . . . . . . . . . . . . . 161 Miscellaneous Joint Laxity Syndromes. . . . . . . . . . . . . . . . . .. 161 Joint Laxity in Inherited Connective Tissue Disorders. . . 161 Skeletal Dysplasias with Predominant Joint Laxity. . . . . . . 165 Dwarfing Dysplasias with Variable Joint Laxity. . . . . . . . . 166 Genetic Syndromes in Which Hypermobility is Overshadowed by Other Manifestations. . . . . . . . . . . . . .. 169 References. . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 171 Ehlers-Danlos Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . 171 Familial Articular Hypermobility Syndromes......... .. 174 Miscellaneous Joint Laxity Syndromes. . . . . . . . . . . . . . . . . 175 Index................................................... 178 Chapter 1 Introduction to Hypermobility Historical Background The first clinical description of articular hypermobility is attributed to Hippocrates, who, in the fourth century B.C., described the Scythians, a race of people inhabiting the region that now forms the Ukraine and Czechoslovakia, as having humidity, flabbiness and atony such that they were unable to use their weapons. Their main problem in warfare was that hyperlaxity of the elbow and shoulder joints prevented them from drawing their bows effectively. Thereafter, the study of joint hypermobility was ignored until the late nineteenth century, when general physicians were energetically defining medical syndromes, some of which included joint hypermobility as an important feature. Notable amongst these were Ehlers-Danlos syndrome (EDS) and Marfan syndrome. The last 50 years have seen the recognition of joint hypermobility, without obvious widespread connective tissue abnormality, as a cause of orthopaedic and rheumatological symptoms. In investigations on a small number of subjects Finkelstein (1916) and Key (1927) noted a familial predisposition to lax joints. Subsequently, orthopaedic surgeons recognised the importance of generalised joint laxity in the pathogenesis of dislocation of a single joint. Congenital disloca tion of the hip was investigated by Massie and Howarth (1951) and Carter and Wilkinson (1964). Carter and Sweetnam (1958, 1960) studied dislocation of the patella and dislocation of the patella and shoulder. Thereafter, generalised joint laxity was recognised as being more common than had previously been realised. This led to the introduction of simple clinical scoring systems for measuring joint laxity in affected individuals and populations. The first report of an association between joint laxity and rheumatological symptoms emanated from Sutro (1947), who described 13 young adults with effusions and pain in hypermobile knees and ankles. Similar clinical observ ations led Kirk et al. (1967) to define the "hypermobility syndrome" in a group of patients with joint laxity and musculoskeletal complaints. In the absence of demonstrable systemic rheumatological disease, these authors attributed the symptoms to articular hypermobility. Wood (1971) argued from the epidemiological viewpoint that joint hyper mobility should be considered as a graded trait rather than as an "all or nothing" syndrome. This is a simplistic concept and there is general agreement amongst colleagues with clinical experience that the category "loose-jointed persons"

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