The paper reviews necropsy findings in myatonia congenita, highlighting controversy over whether it is a primary muscle disease or a spinal muscular atrophy.
Answers are grounded in this paper and cite their sources.
Supports historical link of myatonia congenita to fetal SMA; leaves open its distinction from primary myopathies in current classifications.
The pathogenesis of myatonia congenita (Oppenheim) is still highly controversial, despite the reports of 32 cases in which necropsy was performed. Spiller,1Lereboullet and Baudouin,2Councilman and Dunn3and Silberberg4were unable to find pathologic changes in the nervous system; alterations in their cases were limited to the muscles In 26 other cases in which necropsy was performed, reported by nineteen authors, pathologic changes of varying kind and degree were observed in the anterior horn cells, the spinal roots and the muscles. Seven of these authors (Anderson and Reeves,5Greenfield and Stern,6Grinker,7von Lehoczky,8Neumann,9Slauck10and Tuthill and Levy11) expressed the opinion that progressive degeneration and eventual loss of the anterior horn cells were the primary cause of the disease. Hence, according to this opinion myatonia congenita is a fetal form of the Werdnig-Hoffmann type of infantile progressive spinal muscular atrophy. Bielschowsky,12on the other hand, has expressed
No takes yet. Share an insight, caveat, or question.
F. H. Lewey (1942) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: