Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (35)
Right arrowRequest Permissions
Right arrow Disclaimer
Google Scholar
Right arrow Articles by Sadeh, M.
Right arrow Articles by Ben-David, E.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Sadeh, M.
Right arrow Articles by Ben-David, E.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Brain, Vol. 116, No. 1, 217-232, 1993
© 1993 Oxford University Press

research-article

Vacuolar myopathy sparing the quadriceps

Menachem Sadeh1, Natan Gadoth2, Herzlia Hadar3 and Eitan Ben-David4

1Department of Neurology, The Chaim Sheba Medical Center, Tel Hashomer, Tel Aviv University Israel 2Department of Neurology, Tel Aviv University Israel 3Department of Radiology, Tel Aviv University Israel 4Pathology, Beilinson Medical Center, Petah Tikva and the Sackler School of Medicine, Tel Aviv University Israel

Correspondence to: Correspondence to: Dr M. Sadeh, Department of Neurology, The Chaim Sheba Medical Center, Tel Hashomer 52621, Israel.

Twenty-two Jewish patients, belonging to 15 families, 11 of them from Iran and three possibly of Iranian stock, suffered from progressive muscle weakness and wasting. The initial symptom was usually distal leg muscle weakness, appearing in the third or fourth decade and insidiously involving the proximal muscles and to a lesser extent the upper limbs. The quadriceps muscle was consistently spared even in advanced cases. Computerized tomography (CT) scans of muscles demonstrated variable wasting and fatty replacement of limb and axial muscles, while the vastus lateralis muscle retained its normal CT appearance. The typical light microscopy features of the affected muscles were: presence of vacuoles within muscle fibres, internal nuclei, longitudinal fibre splitting and, in severely affected muscles, endomysial fibrosis without, inflammation or fibre necrosis. Electron microscopy suggested that the vacuoles were autophagic. Cytoplasmic and intranuclear inclusions were rare. While electromyography (EMG) revealed presence of spontaneous activity, however, analysis of muscle action potentials, turns-amplitude ratio, macro-EMG and single fibre EMG suggested a primary myopathic disorder. Consanguinity in seven families, the parents being first cousins, and the presence of additional affected siblings of both sexes may suggest an autosomal recessive trait. The presence of this disorder in Iranian Jews may indicate that this is a distinct myopathic entity.

Received September 20, 1991. Revised May 19, 1992. Accepted August 25, 1992.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 GlycobiologyHome page
S. E. Sparks, C. Ciccone, M. Lalor, E. Orvisky, R. Klootwijk, P. J. Savelkoul, M. C. Dalakas, D. M. Krasnewich, W. A. Gahl, and M. Huizing
Use of a cell-free system to determine UDP-N-acetylglucosamine 2-epimerase and N-acetylmannosamine kinase activities in human hereditary inclusion body myopathy
Glycobiology, November 1, 2005; 15(11): 1102 - 1110.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
L.-S. Ro, G.-J. Lee-Chen, T.-C. Lin, Y.-R. Wu, C.-M. Chen, C.-Y. Lin, and S.-T. Chen
Phenotypic Features and Genetic Findings in 2 Chinese Families With Miyoshi Distal Myopathy
Arch Neurol, October 1, 2004; 61(10): 1594 - 1599.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
Z. Argov, I. Eisenberg, G. Grabov-Nardini, M. Sadeh, I. Wirguin, D. Soffer, and S. Mitrani-Rosenbaum
Hereditary inclusion body myopathy: The Middle Eastern genetic cluster
Neurology, May 13, 2003; 60(9): 1519 - 1523.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.