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High frequency ultrasound is a valuable tool for assessing soft tissue injuries about the shoulder. It has advantages over other imaging modalities including relatively low cost, portability, and dynamic real‐time visualization. It has a high sensitivity for identifying tendon degeneration, bursitis, and rotator cuff tears. Ultrasound is also an excellent modality for diagnostic and therapeutic needle‐guided...
Introduction
The objective of this study was to obtain a 6‐month natural history of motor function performance in individuals with RYR1‐ related myopathy (RYR1‐RM) by using the Motor Function Measure‐32 (MFM‐32) and graded functional tests (GFT) while facilitating preparation for interventional trials.
Methods
In total, 34 participants completed the MFM‐32 and GFTs at baseline and 6‐month visits...
Introduction: Charcot‐Marie‐Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial...
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