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We appreciate the writer’s interest and comment on the recently published article “Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneu-monia and Chronic Respiratory Insufficiency” [1]. The diagnosis of Freeman–Burian syndrome (FBS), a novel term replacing Freeman–Sheldon syndrome, is based on physical characteristics, especially craniofacial abnor-malities, such as whistling face, microstomia, prominent nasolabial folds, and H- or V-shaped chin defect [2]. Pre-vious reports had shown that mutations in the embryonic myosin heavy chain (MYH3) have strong correlation with FBS [3], while it may be non-diagnostic [2]. As the writer has pointed out, we did not focus on mentioning the di-agnostic criteria of FBS; however, the patient in the study meets the diagnostic criteria. The patient had character-istic facial abnormalities of FBS as shown in figure and a gene defect in MYH3. For additional information on the diagnostic criteria for FBS, please refer to the paper au-thored by Poling et al. [2]. As per the writer’s comment, it is essential to deliber-ate more regarding the cause of the respiratory failure. This leads to the query regarding the cause of chronic respiratory failure of restrictive pulmonary disease. In FBS patients, as in the case of most patients with neu-romuscular disease, the muscles involved in respiration are weakened [4]. It is notable that problems with the nervous system can cause the respiratory muscles to fail to function [5]. Alternately, severe scoliosis can be the problem [6]. As mentioned above, there can be a plethora of poten-tial causes of respiratory failure in FBS patients. Thus, it is challenging to pinpoint the main cause of respiratory failure in patients with FBS. This patient clearly has a Annals of Rehabilitation MedicineResponseAnn Rehabil Med 2020;44(5):411-413pISSN: 2234-0645 • eISSN: 2234-0653https://doi.org/10.5535/arm.20110.RResponse: Precise Pulmonary Function Evaluation and Management of a Patient With Freeman-Sheldon Syndrome Associated With Recurrent Pneumonia and Chronic Respiratory Insufficiency (Ann Rehabil Med 2020;44:165-70)Jihyun Park, MD1,2, Seong-Woong Kang, MD, PhD1,2, Won Ah Choi, MD, PhD1,2,  Yewon Lee, MD1,2, Han Eol Cho, MD1,21Department of Rehabilitation Medicine and Rehabilitation Institute of Neuromuscular Disease,  Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul;  2Pulmonary Rehabilitation Center, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, KoreaReceived June 22, 2020; Accepted June 25, 2020Corresponding author: Han Eol ChoDepartment of Rehabilitation Medicine, Gangnam Severance Hospital and Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea. Tel: +82-10-2714-9171, Fax: +82-2-2019-3490, E-mail: wtzephyr@yuhs.acORCID: Jihyun Park (https://orcid.org/0000-0002-2172-1072); Seong-Woong Kang (https://orcid.org/0000-0002-7279-3893); Won Ah Choi (https://orcid.org/0000-0003-0403-8869); Yewon Lee (https://orcid.org/0000-0002-2001-3824); Han Eol Cho (https://orcid.org/0000-0001-5625-3013). This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited.Copyright © 2020 by Korean Academy of Rehabilitation MedicineJihyun Park, et al.412 www.e-arm.orgweakness of the inspiratory and expiratory muscles, with a vital capacity of under 20% of the normal predictive value, a maximal inspiratory and expiratory pressure under 30% of the normal predictive values on repeated evaluations. We first considered the possibility that pa-tients with FBS might have weakness of the respiratory muscles since there was a report that the weakening of intercostal muscles in patients with FBS is observed [7]. However, it is difficult to say this with certainty from a single case report without much needed details on prop-er pulmonary function tests or records of pulmonary rehabilitation at the onset of respiratory failure. Notably, no literature regarding accurate pulmonary functions of FBS to confirm the weakness of respiratory muscle strength can be found. The clinical course of our patient was similar to the previous report of FBS with respira-tory failure with scoliosis [8]. Hence, we concluded that the main cause of the respiratory failure might be severe scoliosis.However, as the letter pointed out, the normal muscle fibers were replaced by white fibrous tendinous-like tis-sue resulting in decreased muscle strength in FBS. This suggests that the respiratory muscles might be affected in some cases of severe FBS. We agree with the letter’s opinion and want to explore the possibility of weakened respiratory muscles being the cause of respiratory failure in FBS. To prove this, it is necessary to obtain the pulmo-nary functions of a number of FBS longitudinally. Additionally, while the letter emphasized the impor-tance of physical exercise, it is impossible to impede the progression of pathologic muscle weakness including that of respiratory muscles by physical exercise alone in patients with most neuromuscular disorders [9]. Me-chanical ventilation support and cough augmentation techniques are essential for those patients to maintain their cardiopulmonary function and to improve the qual-ity of life [10].In our case, the patient showed hypercapnia without using ventilator in a few hours indicating a need for ven-tilatory support. However, from a different viewpoint, the patient had several hours in a day to stay without a ventilator before showing hypercapnia. Additionally, after learning how to perform cough augmentation tech-niques, he had not suffered from pneumonia which had repeatedly occured. Mechanical ventilation and cough augmentation techniques had a significant impact on his health and quality of life.In summary, it would be necessary to conduct a regu-lar assessment of pulmonary function in FBS patients. If respiratory failure due to severe respiratory muscle weak-ness is observed, physicians should consider using me-chanical ventilation and educating an cough augmenta-tion techniques. Further studies are needed to determine if the patients with FBS have additional causes of respira-tory failure other than severe scoliosis.CONFLICT OF INTERESTNo potential conflict of interest relevant to this article was reported.REFERENCES1. Park J, Kang SW, Choi WA, Lee Y, Cho HE. Precise pulmonary function evaluation and management of a patient with Freeman-Sheldon syndrome associated with recurrent pneumonia and chronic respiratory insufficiency. Ann Rehabil Med 2020;44:165-70.2. Poling MI, Dufresne CR, Chamberlain RL. Freeman-Burian syndrome. Orphanet J Rare Dis 2019;14:14.3. Toydemir RM, Rutherford A, Whitby FG, Jorde LB, Carey JC, Bamshad MJ. Mutations in embryonic myo-sin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet 2006;38:561-5.4. Kang SW. Pulmonary rehabilitation in patients with neuromuscular disease. Yonsei Med J 2006;47:307-14.5. Choi WA, Kang SW, Shin JC, Lee DY, Kim DH, Kim SD. Noninvasive respiratory management for patients with cervical spinal cord injury. J Korean Acad Reha-bil Med 2010;34:518-23.6. Branthwaite MA. Cardiorespiratory consequenc-es of unfused idiopathic scoliosis. Br J Dis Chest 1986;80:360-9.7. Vanek J, Janda J, Amblerova V, Losan F. Freeman-Shel-don syndrome: a disorder of congenital myopathic origin? J Med Genet 1986;23:231-6.8. Attia A, Suleman M. Freeman–Sheldon syndrome with respiratory failure: a case report. Respir Med CME 2008;1:274-7.9. Thomas MA, Fast A, Bach JR. Rehabilitation of the patient with disease of the motor unit.  In: DeLisa Causes and Treatment of Respiratory Weakness in FBS413www.e-arm.orgJA, Gans BM, Bockenek WL, editors. Rehabilitation medicine: principles and practice. Philadelphia, PA: Lippincott-Raven; 1998, p. 1545-73.10. Bach JR, Rajaraman R, Ballanger F, Tzeng AC, Ishika-wa Y, Kulessa R, et al. Neuromuscular ventilatory in-sufficiency: effect of home mechanical ventilator use v oxygen therapy on pneumonia and hospitalization rates. Am J Phys Med Rehabil 1998;77:8-19.

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