title: Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy.
abstract: Muscle diseases may have various clinical manifestations including muscle weakness, atrophy or hypertrophy and joint contractures. A spectrum of non-muscular manifestations (cardiac, respiratory, cutaneous, central and peripheral nervous system) may be associated. Few of these features are specific. Limb joint contractures or spine rigidity, when prevailing over muscle weakness in ambulant patients, are of high diagnostic value for diagnosis orientation. Within this context, among several disorders, four groups of diseases should systematically come to mind including the collagen VI-related myopathies, the Emery-Dreifuss muscular dystrophies, the SEPN1 and FHL1 related myopathies. More rarely other genetic or acquired myopathies may present with marked contractures. Diagnostic work-up should include a comprehensive assessment including family history, neurological, cardiologic and respiratory evaluations. Paraclinical investigations should minimally include muscle imaging and electromyography. Muscle and skin biopsies as well as protein and molecular analyses usually help to reach a precise diagnosis. We will first describe the main muscle and neuromuscular junction diseases where contractures are typically a prominent symptom of high diagnostic value for diagnosis orientation. In the following chapters, we will present clues for the diagnostic strategy and the main measures to be taken when, at the end of the diagnostic work-up, no definite muscular disease has been identified.
authors.affiliation: Centre de référence pathologie neuromusculaire Paris Est, groupe hospitalier Pitié-Salpêtrière, 47-83, boulevard de L'Hôpital, 75013 Paris, France; Institut de myologie, hôpital Pitié-Salpêtrière, 47-83, boulevard de L'Hôpital, 75013 Paris, France. Electronic address: anne-marie.maronne@psl.aphp.fr.
authors.forename: B
authors.initials: B
authors.lastname: Eymard
authors.forename: A
authors.initials: A
authors.lastname: Ferreiro
authors.forename: R
authors.initials: R
authors.lastname: Ben Yaou
authors.forename: T
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D003286:Contracture / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D019937:Diagnostic Techniques and Procedures; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D060588:LIM Domain Proteins / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D009135:Muscular Diseases / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D009136:Muscular Dystrophies / Q000151:congenital / Q000175:diagnosis; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics; D020294:Myasthenic Syndromes, Congenital / Q000175:diagnosis; D051140:Selenoproteins / Q000235:genetics
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins; C435489:SELENON protein, human; D051140:Selenoproteins
keywords: Collagen VI-related myopathies; Emerin; Emerine; Emery–Dreifuss muscular dystrophy; FHL1; Joint contractures; Lamines A/C; Lamins A/C; Myopathie d’Emery-Dreifuss; Myopathies liées au collagène VI; Rigid spine syndrome; Rétractions tendineuses; SEPN1; Syndrome de la colonne raide