title: [Muscular disorders: unusual or focal presentations].
abstract: Despite major development of complementary investigations, diagnosis of muscular disorders is mainly clinical. Myopathies can present with unusual or atypical clinical features: myotonia, periodic paralysis, respiratory failure, swallowing difficulties, ptosis, ophtalmoplegia, camptocormia, distal or asymmetrical limb muscle weakness. It can be cause of inaccurate diagnosis. The clinical variability of muscular disorders must be recognized by physicians to drive diagnosis process and to offer an opportunity for early interventional management strategies. This paper reviews the main atypical clinical features of myopathies and their causes.
authors.affiliation: Centre de référence des maladies neuromusculaires et de la SLA, hôpital La Timone, 13385 Marseille Cedex 5, France. emmanuelle.salort-campana@ap-hm.fr
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Campana-Salort
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000175:diagnosis; D003680:Deglutition Disorders / Q000209:etiology; D003937:Diagnosis, Differential; D004576:Electromyography; D005817:Genetic Counseling; D006801:Humans; D008875:Middle Aged; D018908:Muscle Weakness / Q000175:diagnosis; D009135:Muscular Diseases / Q000151:congenital / Q000175:diagnosis* / Q000235:genetics; D009136:Muscular Dystrophies / Q000175:diagnosis; D009460:Neurologic Examination; D009886:Ophthalmoplegia / Q000175:diagnosis; D010245:Paralyses, Familial Periodic / Q000175:diagnosis; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D012132:Respiratory Muscles / Q000503:physiopathology