title: Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia.
abstract: Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene and characterized by life-threatening respiratory distress due to irreversible diaphragmatic paralysis between 6weeks and 6months of age. In this study, we describe a two-month-old boy who presented with hypertonia at first and developed to hypotonia progressively, which was in contrast to the manifestations reported previously. Bone tissue compromise was also observed as one of the unique symptoms. Muscle biopsy indicated mild myogenic changes. He was misdiagnosed until genetic screening to be confirmed as SMARD1. SMARD1 is a clinical heterogeneous disease and this case broadens our perception of its phenotypes.
authors.affiliation: Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
authors.forename: Chunxi
authors.initials: C
authors.lastname: Han
authors.affiliation: Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China; Shantou University Medical College, Shantou, Guangdong, China.
authors.forename: Jiahui
authors.initials: J
authors.lastname: Mai
authors.affiliation: BGI-Wuhan, Wuhan, China.
authors.forename: Tian
authors.initials: T
authors.lastname: Tian
authors.affiliation: Pediatric Intensive Care Unit, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
authors.forename: Yanxia
authors.initials: Y
authors.lastname: He
authors.affiliation: Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
authors.forename: Jianxiang
authors.initials: J
authors.lastname: Liao
authors.affiliation: Department of Neurology, Shenzhen Children's Hospital, Shenzhen, Guangdong, China.
authors.forename: Feiqiu
authors.initials: F
authors.lastname: Wen
authors.affiliation: BGI-Wuhan, Wuhan, China.
authors.forename: Xin
authors.initials: X
authors.lastname: Yi
authors.affiliation: BGI-Wuhan, Wuhan, China. Electronic address: yangyuncxh@163.com.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yang
mesh_terms: D004268:DNA-Binding Proteins / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007223:Infant; D008297:Male; D009122:Muscle Hypertonia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D012133:Respiratory Paralysis / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; C489892:IGHMBP2 protein, human; D014157:Transcription Factors
keywords: Bone tissue compromise; Diaphragmatic paralysis; Hypertonia; IGHMBP2; Spinal muscular atrophy with respiratory distress type 1 (SMARD1)