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McArdle's syndrome. Fine structural changes in muscle

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Summary

Two cases of McArdle's syndrome are reported. One is a “classical” exaple; the other is unusual because of the in vitro presence of muscle phosphorylase activity. In the latter case. the electronmicroscopic investigation confirmed the diagnosis.

The fine structural changes characteristic of this disease are summarized and it is concluded that histochemical studies alone are insufficient to exclude the diagnosis of McArdle's myopathy.

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References

  • Berqonignan, M., Vital, C., Botaille, J. M.: Les Myopathies Hypothyroidiennes. Aspects Cliniques des Histopathologiques. Presse med.75, 1551–1556 (1967)

    Google Scholar 

  • Bonilla, E., Schotland, D. L.: Histochemical diagnosis of muscle phosphofructokinase deficiency. Arch. Neurol. (Chicago)22, 8–12 (1970)

    Google Scholar 

  • Brownell, B., Trevor Hughes, J., Groldby F. S., Woods, H. F.: McArdle's Myopathy, A report of a case with observations on the muscle ultrastructure. J. Neurol. Sci.9, 515–526 (1969)

    Google Scholar 

  • Brooke, M. H., Engel, W. K.: Nitro Blue Tetrazolium: Selective binding within striated muscle fibers. Neurology (Minneap.)16, 799–806 (1966)

    Google Scholar 

  • Chui, L. A., Munsat, T. L.: Dominant inheritance of McArdle's syndrome. Arch. Neurol. (Chicago)33, 636–641 (1976)

    Google Scholar 

  • Dubowitz, V., Brooke, M.: Muscle Biopsy: A Modern Approach. Vol. 2 in the series Major Problems in Neurology, pp. 27–33. London: W. S. Sanders Co., Ltd. 1973

    Google Scholar 

  • Engel, W. K., Cunningham, G. G.: Rapid examination of muscle tissue. An improved trichrome method for fresh-frozen biopsy sections. Neurology (Minneap.)13, 919–923 (1963)

    Google Scholar 

  • Engel, A. G., Dale, A. J. D.: Atophagic glycogenosis of late onset with mitochondrial abnormalities: Light and electron microscopic observations. Proc. Staff. Meet., Mayo Clin.43, 233–279 (1968)

    Google Scholar 

  • Engel, A. G., McDonald, R. D.: Ultrastructural reactions in muscle diseases. In Proceedings, International Congress on Muscle Diseases, Milan, 1969 ed. Walton, J. N., Canal N., and Scarlata, J., Int. Congr. Ser. No.199, pp. 71–89. Amstr. Excerpta Med. (1970)

  • Engel, A. G.: Acid maltase deficiency in adults: Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies. Brain93, 599–616 (1970a)

    Google Scholar 

  • Engel, A. G.: Acid maltase deficiency in adult life. Morphological and biochemical data in three cases of a syndrome simulating other myopathies. In Proceedings, International Congress on Muscle Diseases, Milan, 1969 ed. Walton, J. N., Canal, N., and Scarlata, J., Int. Congr. Ser. No.199, pp. 236–245. Amstr. Excerpta Med. (1970b)

  • Engel, W. K., Eyerman, E. L., Williams, H. E.: Late onset type of skeletal muscle-phosphorylase deficiency: A new familial variety with completely and primarily affected subjects. N. Eng. J. Med.268, 135–137 (1963)

    Google Scholar 

  • Erankö, O., Palkama, A.: Improved localization of phosphorylase by the use of polyvinyl pyrrolidone and high substrate concentration. J. Histochem. Cytochem.9, 585 (1961)

    Google Scholar 

  • Fattah, S. M., Rubulis, A., Faloon, W. W.: McArdle's disease: Metabolic studies in a patient and review of the syndrome. Am. J. Med.48, 693–699 (1970)

    Google Scholar 

  • Gambetti, P., Mellman, W. J., Gonatas, N. K.: Familial spongy degeneration of the central nervous system (van Vogaert Bertrand disease). An ultrastructural study. Acta Neuropath.12 289–300 (1969)

    Google Scholar 

  • Grunfeld, J. P., Ganeval, D., Chanard, J., Fardeau, M., Dreyfus, J. C.: Actute renal failure in McArdle's disease. Report of two cases. N. Eng. J. Med.286, 1237–1241 (1972)

    Google Scholar 

  • Heffner, R. R.: Electronmicroscopy of disorders of skeletal muscle. Ann. Clin. Lab. Sci.5, 338–347 (1975)

    Google Scholar 

  • Howes, E. L., Price, H. M., Blumberg, J. M.: The effects of a diet producing lipochrome pigment (ceroid) on the ultrastructure of skeletal muscles in the rat. Am. J. Path.45, 599–631 (1964)

    Google Scholar 

  • Hughes, J. T.: Pathology of Muscle in the series Major Problems in Pathology. pp. 144–149. Philadelphia-London-Toronto: W. B. Saunders Co. 1974

    Google Scholar 

  • Korényi-Both, A., Virágh, S.: The fine structure of the abdominal paraganglia in newborn mice. Acta Biol. Acad. Sci. Hung.17, 402–403 (1966)

    Google Scholar 

  • Korényi-Both, A.: Studies on the damages of skeletal muscle in human biopsy specimens and experimental models (fine structural examinations). Acad. Thesis Budapest, 1971

  • Korényi-Both, A., Szobor, A.: Ultrastructural studies in different cases neurogenic muscle atrophy (Hung.) Ideggy Szemle27, 398–412 (1974)

    Google Scholar 

  • Korényi-Both, A., Lapis, K., Gallai, M., Szobor, A.: Fine structural alterations in diseases accompanied by myotonia. Beitr. Path.156, 241–256 (1975)

    Google Scholar 

  • Korényi-Both, A.: Damage of skeletal muscle in rats by immunoglobulins II. Ultrastructural studies. Acta Neuropathol. (Berlin)34, 207–218 (1976)

    Google Scholar 

  • Luft, R., Ikkos, D., Palmieri, G., Ernster, L., Afzelius, B.: A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical and morphological study. J. Clin. Invest.41, 1776–1804 (1962)

    Google Scholar 

  • Mair, W. G. P., Tomé, F. M. S.: Atlas of the Ultrastructure of Diseased Human Muscle. London: Churchill Livingstone, 1972

    Google Scholar 

  • Mastaglia, F. L., McCollum, J. P. U., Larson, P. F., Hudgson, P.: Steroid myopathy complicating McArdle's disease. J. Neurol. Neurosurg. Psychiat.33, 111–120 (1970)

    Google Scholar 

  • McArdle, B.: Myopathy due to a defect in muscle glycogen breakdown. Clin. Sci.10, 13–35 (1951)

    Google Scholar 

  • Milhorat, A. T., Shafiq, S. A., Goldstone, L.: Changes in muscle structure in dystrophic patients, carriers, and normal siblings seen by electronmicroscopy: Correlations with levels of serum creatinine kinase. Ann. N. Y. Acad. Sci.138, 246–292 (1966)

    Google Scholar 

  • Miller, F., Palade, G. E.: Lytic activities in renal protein absorption droplets. An electronmicroscopical, cytochemical study. J. Cell. Biol.23, 519–532 (1964)

    Google Scholar 

  • Novikoff, A. B., Essner, F.: Cytolysomes and mitochondrial degeneration. J. Cell. Biol.15, 140–146 (1962)

    Google Scholar 

  • Pearce, G. W., Adamson, D. G., Salter, R. H.: The pathology of muscle glycogenosis. In Proceedings, 4th Symposium on Research in Muscular Dystrophy. pp. 188–206. London: Pittman, 1968

    Google Scholar 

  • Pearson, C. M., Rimer, D. G.: Evidence for direct utilization of fructose in working muscle in man. Proc. Soc. Exp. Biol. Med.100, 671–672 (1959a)

    Google Scholar 

  • Pearson, C. M., Rimer, D. G., Mommarets, W. F. H. M.: Defect in muscle phosphorylase: A newly defined human disease. Clin. Res.7, 298 (1959b)

    Google Scholar 

  • Pearson, C. M., Rimer, D. G., Mommarets, W. F. H. M.: A metabolic myopathy due to absence of muscle phosphorylase. Am. J. Med.30, 417–502 (1961)

    Google Scholar 

  • Perkoff, G. T., Diaso, M. M., Bleisch, V., Klinkerfuss, G.: A spectrum of myopathy associated with alcoholism. I. Clinical and Laboratory Features. Ann. Intern. Med.67, 481–492 (1967)

    Google Scholar 

  • Policard, A., Collet, A., Martin, J. C., Pregermain, S.: Etudes inphramicroscopiques sur les processors d'alvéolite. Presse Med.69, 1709–1712 (1961)

    Google Scholar 

  • Reynolds, E. S.: The use of lead citrate et high pH as an electronopaque stain in electronmicroscopy. J. Cell. Biol.17, 208–212 (1963)

    Google Scholar 

  • Roelofs, R. I., Corbin, J., Peter, J. B.: A new variant of McArdle's disease. Neurology (Minneap.)24, 397 (1974 abstr.)

    Google Scholar 

  • Rowland, L. P., Fahn, S., Schotland, D. L.: McArdle's disease. Hereditary myopathy due to absence of muscle phosphorylase. Arch. Neurol.9, 325–342 (1963)

    Google Scholar 

  • Salter, R. H., Adamson, D. G., Pearce, G. W.: McArdle's syndrome (myophosphorylase deficiency). Q. J. Med.36, 565–578 (1967)

    Google Scholar 

  • Santa, T.: Fine structure of the human skeletal muscle in myopathy. Arch. Neurol.20, 479–489 (1969)

    Google Scholar 

  • Schimick, K., Mertens, H. G., Ricker, K., Fuhr, J., Eyer, P., Pette, D.: McArdle's syndrome (Myopathie bei fehlender Muskelphosphorylase). Klin. Wschr.45, 1–17 (1967)

    Google Scholar 

  • Schmid, R., Mahler, R.: Chronic progressive myopathy with myoglobinuria: Demonstration of glycogenolytic defect in the muscle. J. Clin. Invest.38, 2044–2058 (1959)

    Google Scholar 

  • Schmid, R., Hanmaker, L.: Hereditary absence of muscle phosphorylase (McArdle's syndrome). N. Engl. J. Med.204, 223–225 (1961)

    Google Scholar 

  • Schutta, H. S., Armitage, J. L.: Thyrotoxic hypokalemic periodic paralysis. A fine structure study. J. Neuropathol. Exp. Neurol.28, 321–336 (1969)

    Google Scholar 

  • Schotland, D. L., Spiro, D., Rowland, L. P., Carmel, P.: Ultrastructural studies of muscle in McArdle's disease (Deficiency of muscle phosphorylase). J. Neuropathol. Exp. Neurol.24, 629–644 (1965)

    Google Scholar 

  • Shafiq, S. A., Milhorat, A. T., Gorycki, M. A.: An electronmicroscope study of muscle degeneration and vascular changes in polymyositis. J. Pathol. Bact.94, 139–147 (1967)

    Google Scholar 

  • Sluga, E., Seitelberger, F., Moser, K.: Über eine progressive Myopathie mit Muskelphosphorylasemangel und Riesenmitochondrien. Wien. Klin. Wschr.79, 917–921 (1967)

    Google Scholar 

  • Tarui, S., Okuno, G., Ikura, Y., Tanaka, T., Suda, M., Nishikawa, M.: Phosphofructokinase deficiency in skeletal muscle. A new type of glycogenosis. Biochem. Biophys. Res. Commun.19, 417–525 (1965)

    Google Scholar 

  • Tomé, F. M. S., Mair, W. G. P.: Electronmicroscopical and histochemical studies of muscle in a case of neuropathy with target fibres and laminar cytoplasmic structures. Sixth International Congress of Neuropathology, pp. 1970–1971. Paris: Masson 1970

    Google Scholar 

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Korényi-Both, A., Smith, B.H. & Baruah, J.K. McArdle's syndrome. Fine structural changes in muscle. Acta Neuropathol 40, 11–19 (1977). https://doi.org/10.1007/BF00688569

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