Carefully studied cases of amyotonia congenita still deserve the attention of clinicians. Though notable advances in our knowledge of the disease have been made during the twenty years that have elapsed since Oppenheim first described the clinical picture of the condition (1900), there yet remains much that is obscure. Approximately 125 cases of the disease have been reported and are generally accepted as examples of amyotonia congenita. These published cases have recently been analyzed statistically by Faber,1 who is led to define the condition as "a disease beginning at birth or in early infancy due to a congenital developmental defect of the lower motor neuron and of the voluntary muscles, clinically characterized by weakness, hypotonia and a quantitatively diminished electrical response in the muscles, usually without disturbance of a sensation or of mentality." Spiller,2 on the other hand, viewing the disease chiefly from the clinical side, has directed
HOLMES JB. AMYOTONIA CONGENITA (OPPENHEIM): REPORT OF A CASE WITH FULL HISTOPATHOLOGIC EXAMINATION. Am J Dis Child. 1920;20(5):405–435. doi:10.1001/archpedi.1920.01910290061004
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