Abstract
Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children’s Hospital of Philadelphia, PA, and the Children’s Hospital at Dartmouth, Lebanon, NH.
Highlights
SPINAL MUSCULAR ATROPHY AND ARTHROGRYPOSIS Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children's Hospital of Philadelphia, PA, and the Children's Hospital at Dartmouth, Lebanon, NH
SMNT deletion was identified in two of the cases
DNA analysis for SMNT deletion in cases of neurogenic arthrogryposis may uncover a diagnosis of spinal muscular atrophy or SMA variant and facilitate genetic counselling
Summary
SPINAL MUSCULAR ATROPHY AND ARTHROGRYPOSIS Four infants with neurogenic arthrogryposis who died of respiratory failure before 1 month of age had DNA testing of autopsy specimens for SMNT gene deletion in a study at the Children's Hospital of Philadelphia, PA, and the Children's Hospital at Dartmouth, Lebanon, NH. Pathologic, or EMG evidence of motor neuron disease. In addition to anterior horn cell loss, autopsies showed a more extensive neurodegeneration involving central sensory neurons in Clarke's column and the thalamus.
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