Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected. Precisely defining specific categories is a challenge because of overlapping clinical phenotypes, making it difficult to decide which of the many known causative genes to screen in individual cases. In this study we define the distinguishing magnetic resonance imaging findings in myotilin myopathy by studying 8 genealogically unrelated cases due to the same point mutation in TTID. Proximally, the vastii, biceps femoris and semimembranosus were involved with sparing of gracilis and sartorius. Distally, soleus, gastrocnemius, tibialis anterior, extensor hallicus and extensor digitorum were involved. This pattern contrasts with other distal myopathies and provides further support for the role of imaging in the clinical investigation of muscle disease.

Mastaglia FL, Lamont PJ, Laing NG: Distal myopathies. Curr Opin 2005;18:504–510.
Olive M, Armstrong J, Miralles F, et al: Phenotypic patterns of desminopathy associated with three novel mutations of the desmin gene. Neuromuscul Disord 2007;17:443–450.
Goldfarb LG, Vicart P, Goebel HH, Dalakas MC: Desmin myopathy. Brain 2004;127:723–734.
Olive M, Goldfarb L, Moreno D, et al: Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies. J Neurol Sci 2004;219:125–137.
Wallgren-Petterssen C, Lehtokari VL, Kalimo H, et al: Distal myopathy caused by homozygous missense mutations in the nebulin gene. Brain 2007;130:1465–1476.
Cupler EJ, Bohlega S, Hessler R, et al: Miyoshi myopathy in Saudi Arabia: clinical, electrophysiological, histopathological and radiological features. Neuromuscul Disord 1998;8:321–326.
Nguyen K, Bassez G, Krahm M, et al: Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 2007;64:1176–1182.
Brummer D, Walter MC, Palmbach M, et al: Long-term MRI and clinical follow-up of symptomatic and presymptomatic carriers of dysferlin gene mutations. Acta Myol 2005;24:6–16.
Meola G, Sansone V, Rotondo G, Jabbour A: Computerised tomography and magnetic resonance muscle imaging in Miyoshi’s myopathy. Muscle Nerve 1996;19:1476–1480.
Okahashi S, Ogawa G, Suzuki M, Ogata K, et al: Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not CT. Intern Med 2008;47:305–307.
Long-Sun R, Guey-Jen L, Tzu-Ching L, et al: Phenotypic features and genetic findings in two Chinese families with Miyoshi distal myopathy. Arch Neurol 2004;61:1594–1599.
Illa I, De Luna N, Dominguez-Perles R, et al: Symptomatic dysferlin mutation carriers: characterization of two cases. Neurology 2007;68:1284–1287.
Udd B, Partanen J, Halonen P, et al: Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finish patients. Arch Neurol 2007;50:604–608.
Oldfors A: Hereditary myosin myopathies. Neuromuscul Dis 2007;17:355–367.
Mizuno T, Motonaga T, Yanagida K, et al: MRI findings in studies of distal myopathy with rimmed vacuoles. Rin Shin 1989;29:1290–1293.
Berciano J, Gallardo E, Domínguez-Perles R, et al: Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype. J Neurol Neurosurg Psychiatry 2008;79:205–208.
Olive M, Goldfarb LG, Shatunov A, et al: Myotilinopathy: refining the clinical and myopathical phenotype. Brain 2005;128:2315–2326.
Penisson-Besnier I, Talvinen K, Dumez C, et al: Myotilinpathy in a family with late-onset myopathy. Neuromuscul Dis 2006;16:427–431.
Foroud T, Pankratz N, Batchman AP, et al: A mutation in myotilin causes spheroid body myopathy. Neurology 2005;65:1936–1940.
Mercuri E, Pichiecchio A, Allsop J, et al: Muscle MRI in inherited neuromuscular disorders: past, present and future. J Magn Res Imaging 2007;25:433–440.
Ahlberg G, Jakobsson F, Fransson A, et al: Distribution of muscle degeneration in Welander distal myopathy – a magnetic resonance imaging and muscle biopsy study. Neuromuscul Disord 1994;4:55–62.
Hauser MA, Horrigan SK, Salmikangas P, et al: Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000;9:2141–2147.
Birchall D, von der Hagen M, Bates D, et al: Subclinical semitendinosus and obturator externus involvement defines an autosomal dominant myopathy with early respiratory failure. Neuromuscul Disord 2005;15:595–600.
Griggs R, Vihola A, Hackman P, et al: Zaspopathy in a large classic late-onset distal myopathy family. Brain 2007;130:1453–1455.
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.