Sibling cases of <i>four and a half LIM domains 1</i> (<i>FHL1</i>) myopathy who developed respiratory failure without apparent limb weakness
-
- M.D. Aohara Kenta
- Department of Neurology, Osaka City University Graduate School of Medicine
-
- M.D. Kimura Hiroko
- Department of Neurology, Osaka City University Graduate School of Medicine
-
- M.D., Ph.D. Takeda Akitoshi
- Department of Neurology, Osaka City University Graduate School of Medicine
-
- M.D., Ph.D. Izumiya Yasuhiro
- Department of Cardiology, Osaka City University Graduate School of Medicine
-
- M.D., Ph.D. Nishino Ichizo
- Department of Neuromuscular Research, National Center of Neurology and Psychiatry
-
- M.D., Ph.D. Itoh Yoshiaki
- Department of Neurology, Osaka City University Graduate School of Medicine
Bibliographic Information
- Other Title
-
- <i>Four and a half LIM domains 1</i>(<i>FHL1</i>)遺伝子変異によるミオパチーのため四肢筋力低下の自覚なく呼吸不全をきたした兄弟例
Abstract
<p>A 60-year-old man developed dyspnea without apparent limb weakness. He had cardiomyopathy in his 30s and was treated for chronic heart failure since 42. He was diagnosed as having four and a half LIM domains 1 (FHL1) mutation at 53 following the same diagnosis of his younger brother. He was first admitted to the cardiology department for possible worsening of chronic cardiac failure. Blood gas analysis showing respiratory acidosis prompted his treatment with a respirator. Neurological examination revealed that he had mild weakness limited to the shoulder girdle muscles and contracture at jaw, spine, elbows and ankles. Skeletal muscle CT showed truncal atrophy. He, as well as his younger brother, was diagnosed with FHL1 myopathy resulting in ventilation failure and was discharged after successful weaning from the respirator in the daytime. The present sibling cases are the first with FHL1 mutation to develop respiratory failure without limb weakness and suggest that FHL1 myopathy as a differentially diagnosis of hereditary myopathies with early respiratory failure.</p>
Journal
-
- Rinsho Shinkeigaku
-
Rinsho Shinkeigaku 62 (9), 726-731, 2022
Societas Neurologica Japonica