• Ryutaro Nakamura, Akihiro Kitamura, Takahito Tsukamoto, Yuhei Otowa, Naoki Okamoto, Nobuhiro Ogawa, Isamu Yamakawa, Hyoh Kim, Mitsuru Sanada, and Makoto Urushitani.
• Department of Neurology, Shiga University of Medical Science, Japan.
• Intern. Med. 2021 Jun 15; 60 (12): 1935-1939.

AbstractA 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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