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Spinal Muscular Atrophy Type 3 Showing a Specific Pattern of Selective Vulnerability on Muscle Ultrasound.

NAKAMURA Ryutaro KITAMURA Akihiro 80636019 TSUKAMOTO Takahito OTOWA Yuhei OKAMOTO Naoki OGAWA Nobuhiro YAMAKAWA Isamu KIM Hyoh 10612377 SANADA Mitsuru 10418759 URUSHITANI Makoto 60332326 0000-0003-2773-9836 滋賀医科大学

2021.06.15

概要

A 23-year-old woman was admitted for slowly progressive proximal limb muscle weakness from childhood with elevated muscle enzyme levels. Although muscular diseases were suspected, an electromyogram showed remarkable neurogenic changes, and a muscle echogram indicated selective muscle involvement, including dissociation between the soleus and gastrocnemius, which was consistent with previous reports using magnetic resonance imaging (MRI). She was diagnosed with SMA type 3 following genetic testing, and nusinersen was soon initiated. An early diagnosis is mandatory to maximize the benefit of treatment. A muscle echogram may facilitate an early diagnosis in a non-invasive and time-saving manner compared to MRI.

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参考文献

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The Internal Medicine is an Open Access journal distributed under the Creative

Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To

view the details of this license, please visit (https://creativecommons.org/licenses/

by-nc-nd/4.0/).

Ⓒ 2021 The Japanese Society of Internal Medicine

Intern Med 60: 1935-1939, 2021

1939

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