Summary
Four of seven patients with nemaline myopathy had severe, rapidly progressing symptoms. These four showed an increase in acid phosphatase activity in muscle fibers demonstrated by histochemistry and cathepsin B&L activity by biochemical measurement. On electron microscopy, nemaline bodies, occasionally disorganized myofibrils and autophagic vacuoles containing sarcoplasmic debris and glycogen particles were seen. Focal myofibrillar degeneration, through an unknown pathogenetic mechanism, induces an increase in lysosomal enzymes in the skeletal muscles which may be closely correlated with a rapid aggravation of muscle weakness in nemaline myopathy.
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References
Brooke MH, Carroll JE, Ringel SP (1979) Congenital hypotonia revisited. Muscle Nerve 2:84–100
Brownell AKW, Gilbert JJ, Shaw DT, Garcia B, Wenkebach GF, Lam AKS (1978) Adult onset nemaline myopathy. Neurology 28:1306–1309
Dubowitz V (1985) Muscle biopsy. A practical approach. Balliere Tindall, London, pp 19–40
Engel AG, Gomez MR, Seybold ME, Lambert EH (1973) The spectrum and diagnosis of acid maltase deficiency. Neurology 23:95–106
Engel WK (1977) Rod (nemaline) disease. In: Goldensohn ES, Appel SH (eds) Scientific approach to clinical neurology, vol 2. Lea and Febiger, Philadelphia, pp 1667–1691
Fukuhara N, Yuasa T, Tsubaki T, Kushiro S, Takasawa N (1978) Nemaline myopathy: histological, histochemical and ultrastructural studies. Acta Neuropathol (Berl) 42:33–41
Fukuhara N, Kumamoto T, Tsubaki T (1980) Rimmed vacuoles. Acta Neuropathol (Berl) 51:229–235
Hsu SM, Raine L, Fanger H (1981) Use of avidine-biotinperoxidase complex (ABC) in immunoperoxidase techniques: a comparison between ABC and unlabeled antibody (PAP) procedures. J Histochem Cytochem 29:577–580
Ii K, Hizawa K, Nonaka I, Sugita H, Kominami E, Katunuma N (1986) Abnormal increase of lysosomal cysteinine proteinases in rimmed vacuoles in the skeletal muscle. Am J Pathol 122:193–198
Ishibashi T, Miyao M, Momoi M, Kamoshita S, Nonaka I (1985) An infantile case of nemaline myopathy with severe respiratory failure. Brain Dev (Tokyo) 17:565–570
Ishibashi-Ueda H, Imakita M, Yutani C, Takahashi S, Yazawa K, Kamiya T, Nonaka I (1987) Congenital nemaline myopathy with dilated cardiomyopathy. An autopsy study. Presented at the Japanese Society of Pathology, Tokyo
Ishiura S, Nonaka I, Sugita H (1986) Biochemical aspects of bupivacaine induced acute muscle degeneration. J Cell Sci 83:197–212
Karpati G, Carpenter S, Andermann F (1971) A new concept of childhood nemaline myopathy. Arch Neurol 24:291–304
Kominami E, Bando Y, Ii K, Hizawa K, Katunuma N (1984) Increases in cathepsins B and L and thiol proteinase inhibitor in muscle of dystrophic hamsters. Their localization in invading phagocytes. J Biochem (Tokyo) 96:1841–1848
Kominami E, Ii K, Katunuma N (1987) Activation of the intramyofibral autophagic-lysosomal system in muscular dystrophy. Am J Pathol 127:461–466
Martinez BA, Lake BD (1987) Childhood nemaline myopathy: a review of clinical presentation in relation to prognosis. Dev Med Child Neurol 29:815–820
Nonaka I, Sunohara N, Ishiura S, Satoyoshi E 1981) Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 51:141–155
Nonaka I, Takagi A, Ishiura S, Nakase H, Sugita H (1983) Pathophysiology of muscle fiber necrosis induced by bupivacaine hydrochloride (Marcaine). Acta Neuropathol (Berl) 60:167–174
Nonaka I, Tojo M, Sugita H (1983) Fetal muscle characteristics in nemaline myopathy. Neuropediatrics 14:47–52
Nonaka I, Okada S, Saito Y (1984) Defects in muscle fiber maturation in congenital myopathies. In: Serratrice G, Cros D, Desnuelle C, Gastaut JL, Pellissier JF,Pouget J, Schiano A (eds) Neuromuscular diseases. Raven Press, New York, pp 207–212
Nonaka I, Sunohara N, Satoyoshi E, Terasawa K, Yonemoto K (1985) Autosomal recessive distal muscular dystrophy. A comparative study with distal myopathy with rimmed vacuole formation. Ann Neurol 17:51–59
Radu H, Ionescu V (1972) Nemaline (neuro)myopathy. Rod-like bodies and type 1 fiber atrophy in a case of congenital hypotonia with denervation. J Neurol Sci 17:53–60
Robertson WC, Kawamura Y, Dyck PJ (1978) Morphometric study of motoneurons in congenital nemaline myopathy and Werdnig-Hoffmann disease. Neurology 28:1057–1061
Shimomura C, Nonaka I (1989) Nemaline myopathy: comparative muscle histochemistry in the severe neonatal, moderate congenital, and adult-onset forms. Pediatr Neurol 5: 25–31
Stauber WT, Ong SH (1981) Fluorescence demonstration of cathepsin B activity in skeletal, cardiac, and vascular smooth muscle. J Histochem Cytochem 29:866–869
Stauber WT, Ong SH (1982) Fluorescence demonstration of dipeptidyl peptidase I (cathepsin C) in skeletal, cardiac, and vascular smooth muscles. J Histochem Cytochem 30:162–164
Stauber WT, Riggs JE, Schochet SS, Gutmann L, Crosby TW (1986) Nemaline myopathy. Evidence of dipeptidyl peptidase I deficiency. Arch Neurol 43:39–41
Takeuchi Y, Iwami H, Inoue F, Iino S, Yoshioka H, Kusunoki T, Saida K (1985) Rimmed vacuoles in biopsied muscle of nemaline myopathy. Acta Neuropathol (Berl) 68:253–255
Wallgren-Pettersson C, Rapola J, Donner M (1988) Pathology of congenital nemaline myopathy. A follow up study. J Neurol Sci 83:243–257
Yamamoto M, Koga Y, Ohtaki E, Nonaka I (1989) Focal cytochromec oxidase deficiency in various neuromuscular diseases. J Neurol Sci 91:207–213
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Nonaka, I., Ishiura, S., Arahata, K. et al. Progression in nemaline myopathy. Acta Neuropathol 78, 484–491 (1989). https://doi.org/10.1007/BF00687709
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DOI: https://doi.org/10.1007/BF00687709