Long-Term Stabilization of Respiratory Conditions in Patients with Spinal Muscular Atrophy Type 2 by Continuous Positive Airway Pressure : a Report of Two Cases

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概要

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• Spinal muscular atrophy (SMA) type 2 is a motor neuron disease that leads to severe congenital muscle atrophy. The majority of adult patients are at risk of death due to respiratory failure. Here, we report on two patients with SMA type 2 who repeatedly developed bronchitis and pneumonia. The patient in Case 1 was a 48-year-old female lacking exon 7 of the survival motor neuron gene (SMN) 1. The patient in Case 2 was a 37-year-old female lacking exons 7 and 8 in SMN 1 and exon 5 in the neuronal apoptosis inhibitory protein (NAIP) gene.We applied continuous positive airway pressure (CPAP) in both cases because their data on polysomnography showed obstructive sleep apnea (OSA). CPAP treated their respiratory symptoms as well as those due to OSA. Moreover, CPAP stabilized the respiratory condition of Case 1 for seven years and seven months and that of Case 2 for five years and four months. These findings suggest that CPAP alone can achieve long-term improvement in the respiratory condition in patients with SMA type2.

• 2011-00-00

著者

• KATAYAMA Masahiro

  Department of Physics,Faculty of Science, Kyushu University

• Watanabe Toshiya

  Department Of Biochemistry Osaka University Medical School

• Hazama Akihiro

  Department Of Cellular And Integrative Physiology Fukushima Medical University School Of Medicine

• NISHIO Hisahide

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

• Watanabe Toshiya

  Department of Medicine, Omiya Medical Clinic

• Naritomi Hiroaki

  Director of Senri Chuou Hospital

• Teramoto Shoji

  Department of Internal Medicine, Saiseikai Nara Hospital

• Kanda Fumio

  Department of Neurology, Kobe University Hospital

• Katayama Masahiro

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

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