Distinct muscle imaging patterns in myofibrillar myopathies

Fischer, D. and Kley, R. A. and Strach, K. and Meyer, C. and Sommer, T. and Eger, K. and Rolfs, A. and Meyer, W. and Pou, A. and Pradas, J. and Heyer, C. M. and Grossmann, A. and Huebner, A. and Kress, W. and Reimann, J. and Schröder, R. and Eymard, B. and Fardeau, M. and Udd, B. and Goldfarb, L. and Vorgerd, M. and Olivé, M.. (2008) Distinct muscle imaging patterns in myofibrillar myopathies. Neurology, 71 (10). pp. 758-765.

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Official URL: https://edoc.unibas.ch/62996/

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OBJECTIVE: To compare muscle imaging findings in different subtypes of myofibrillar myopathies (MFM) in order to identify characteristic patterns of muscle alterations that may be helpful to separate these genetic heterogeneous muscular disorders. METHODS: Muscle imaging and clinical findings of 46 patients with MFM were evaluated (19 desminopathy, 12 myotilinopathy, 11 filaminopathy, 1 alphaB-crystallinopathy, and 3 ZASPopathy). The data were collected retrospectively in 43 patients and prospectively in 3 patients. RESULTS: In patients with desminopathy, the semitendinosus was at least equally affected as the biceps femoris, and the peroneal muscles were never less involved than the tibialis anterior (sensitivity of these imaging criteria to detect desminopathy in our cohort 100%, specificity 95%). In most of the patients with myotilinopathy, the adductor magnus showed more alterations than the gracilis muscle, and the sartorius was at least equally affected as the semitendinosus (sensitivity 90%, specificity 93%). In filaminopathy, the biceps femoris and semitendinosus were at least equally affected as the sartorius muscle, and the medial gastrocnemius was more affected than the lateral gastrocnemius. The semimembranosus mostly showed more alterations than the adductor magnus (sensitivity 88%, specificity 96%). Early adult onset and cardiac involvement was most often associated with desminopathy. In patients with filaminopathy, muscle weakness typically beginning in the 5th decade of life was mostly pronounced proximally, while late adult onset (<50 years) with distal weakness was more often present in myotilinopathy. CONCLUSIONS: Muscle imaging in combination with clinical data may be helpful for separation of distinct myofibrillar myopathy subtypes and in scheduling of genetic analysis.
UniBasel Contributors:Fischer, Dirk
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:American Academy of Neurology
Note:Publication type according to Uni Basel Research Database: Journal article
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Last Modified:13 Dec 2021 15:25
Deposited On:13 Dec 2021 15:25

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