Rehabilitation of a Patient with Neutral Lipid Storage Disease with Myopathy and Triglyceride Deposit Cardiomyovasculopathy : a Case Report

Takahashi Tamao, Abe Masayuki, Mori Nobuyoshi, Ito Osamu, Sugimura Kohichiro, Kohzuki Masahiro

doi:10.2490/jjrmc.53.495

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Other Title

中性脂肪蓄積症ミオパチー/中性脂肪蓄積心筋血管症に対するリハビリテーションによりQOLの向上を認めた症例
チュウセイシボウチクセキショウミオパチー/チュウセイシボウチクセキシンキンケッカンショウニタイスルリハビリテーションニヨリ QOL ノコウジョウオミトメタショウレイ

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Description

Adipose triglyceride lipase (ATGL) catalyzes the first step of triglyceride hydrolysis. The gene mutations cause neutral lipid storage disease with myopathy (NLSDM) and/or triglyceride deposit cardiomyovasculopathy (TGCV) . Here we give the first report on rehabilitation of a patient with NLSDM and TGCV. The 62-years-old patient was admitted to our hospital for rehabilitation for skeletal myopathy and rehabilitation for cardiac dysfunction (NYHA class Ⅲ , ejection fraction 20%) . He complaint of dyspnea during the activity of daily life and exercise torelance was low. Our rehabilitation program consisted of physical therapy, occupational therapy, nutrition and cardiac education. We had paid a special attention to the intensity of exercise (aerobic training and resistance training) due to the low cardiac function, energy dysfunction and myopathy. After rehabilitation for two months, muscle strength had increased and 6MWT, ATVO₂ had improved. Importantly, the reduction of dyspnea on exertion as well as the increase in exercise capacity are considered to have led to improvement of quality of life.

Journal

The Japanese Journal of Rehabilitation Medicine

The Japanese Journal of Rehabilitation Medicine 53 (6), 495-502, 2016

The Japanese Association of Rehabilitation Medicine

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