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1. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要overview of peripheral nerve and muscle disorders causing hypotonia in the newborn [show details]
…include spinal muscular atrophy, traumatic myelopathy, hypoxic-ischemic myelopathy, and neurogenic arthrogryposis. The most common and severe type that presents in newborns is spinal muscular atrophy (SMA) …
2. 脊髄性筋萎縮症spinal muscular atrophy [show details]
…weakness and hypotonia, often with areflexia, facial diplegia, and congenital heart defects . Arthrogryposis (multiple joint contractures) may be present. No motor milestones are achieved. Death occurs …
3. 新生児や乳児に生じる胆汁うっ滞の原因causes of cholestasis in neonates and young infants [show details]
…of infants with severe liver disease . The cardinal features of arthrogryposis-renal dysfunction-cholestasis syndrome are arthrogryposis (multiple joint contractures), renal dysfunction, and cholestasis …
4. 先天性股関節脱臼：疫学および病因developmental dysplasia of the hip epidemiology and pathogenesis [show details]
…hip dysplasia occurs in association with various syndromes (eg, Ehlers-Danlos, Down syndrome, arthrogryposis), and neuromuscular hip dysplasia occurs when there is weakness and/or spasticity in some or … was breech affects risk of DDH. The risk is higher in infants with frank breech (ie, hips flexed, knees extended) than with footling breech presentation . The risk of DDH appears to be similar among preterm …
5. 筋強直性ジストロフィー：病因、臨床的特徴、および診断myotonic dystrophy etiology clinical features and diagnosis [show details]
…congenital form of DM1 is characterized by profound hypotonia, facial diplegia, poor feeding, arthrogryposis (congenital joint contractures), especially of the legs, and respiratory failure . The majority … with DM1 develop a combination of distal and proximal weakness (foot dorsiflexor weakness, along with knee extensor and hip abductor and flexor weakness) that contributes to an increased incidence of falls…