Congenital cervical spinal atrophy.
Three children presented at birth with axial hypotonia and symmetrical flaccid paresis limited to the upper extremities, and involving proximal and distal muscle groups. At birth, palmar flexion creases were poorly developed, and the hand muscles were atrophic. These clinical features, the muscle biopsy findings, and the nonprogressive course, suggest a vascular insult to the cervical spinal cord during gestation. The term, congenital cervical spinal atrophy seems most descriptive of these features.
D002648:Child; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D008297:Male; D009132:Muscles / Q000473:pathology*; D009133:Muscular Atrophy / Q000151:congenital* / Q000175:diagnosis / Q000473:pathology; D013131:Spine / Q000002:abnormalities*