Summary
Eight cases of congenital muscular dystrophy are described in detail and compared with 27 cases heretofore reported. Congenital muscular dystrophy is defined as a primary myopathy already manifest at birth with the same histological features as seen in progressive muscular dystrophy. During infancy, the clinical picture either of “Arthrogryposis multiplex congenita” or of “Amyotonia congenita” can be observed. Evidence is provided showing that the disease is transmitted as an autosomal recessive trait. Clinical course may suggest a differentiation between a benign and a malign type but further observations are needed to decide whether these two types represent genetically different entities or simple variations of the same disease.
Zusammenfassung
An Hand von 8 eigenen Beobachtungen sowie 27 weiteren Fällen aus der Literatur wird das klinische Bild der kongenitalen Muskeldystrophie eingehend besprochen. Die Myopathie ist bereits beim Neugeborenen deutlich ausgeprägt; histologisch ist sie von einer progressiven Muskeldystrophie nicht zu unterscheiden. Es kann zwischen einer gutartigen und einer bösartigen Verlaufsform unterschieden werden. Vom vorliegenden gesamten Krankengut ausgehend muß ein autosomal recessiver Erbgang angenommen werden.
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Literatur
Adams, R. D., D. Denny-Brown, and C. M. Pearson: Diseases of muscle. A study in pathology. 2. Ed. New York: Harper 1962.
Arthuis, M. M. P.: L'amyotrophie spinale infantile de Werdnig-Hoffmann. Paris: Thèse 1954.
Banker, Q. B., M. Victor, and R. D. Adams: Arthrogryposis multiplex due to congenital muscular dystrophy. Brain 80, 319 (1957).
Brandt, S.: Werdnig-Hoffmanns infantile progressive muscular atrophy. Kopenhagen: Munksgaard 1950.
Brody, I. A.: The significance of lactate dehydrogenase isoenzymes in abnormal human skeletal muscle. Neurology (Minneap.) 14, 1091 (1964).
Collier, J., and G. Holmes: The pathological examination of two cases of amyotonia congenita with the clinical description of a fresh case. Brain 32, 269 (1909).
— and S. A. K. Wilson: Amyotonia congenita. Brain 31, 1 (1908).
Drachman, D. B., and Q. B. Banker: Arthrogryposis multiplex congenita. Arch. Neurol. (Chic.) 5, 77 (1961).
— and A. J. Coulombre: Experimental clubfoot and arthrogryposis multiplex congenita. Lancet 1962/II, 523.
Engel, W. K., J. B. Foster, B. P. Hughes, H. B. Huxley, and R. Mahler: Central core disease. An investigation of a rare muscle cell abnormality. Brain 84, 167 (1961).
Farber, S., and J. M. Craig: Clinical pathological conference. The Children's Medical Center. Boston (Mass.) J. Pediat. 53, 744 (1958).
Fowler, M.: A case of arthrogryposis multiplex congenita with lesions in the nervous system. Arch. Dis. Childh. 34, 505 (1959).
Frischknecht, W., L. Bianchi u. G. Pilleri: Familiäre Arthrogryposis multiplex congenita. Neuro-arthro-myodysplasia congenita. Helv. paediat. Acta 15, 259 (1960).
Greenfield, J. G., T. Cornman, and G. M. Shy: The prognostic value of the muscle biopsy in the “floppy infant”. Brain 81, 461 (1958).
Haushalter, P.: Sur la myatonie congénitale (Maladie d'Oppenheim). Arch. Méd. Enf. 23, 133 (1920).
Howard, R.: A case of congenital defect of the muscular system (Dystrophia muscularis congenita) and its association with congenital talipes equino-varus. Proc. roy. Soc. Med. (Path. Sect.) 1, 157 (1908).
Joseph, R., D. Pellerin et J. C. Job: L'arthrogrypose multiple congénitale. Sem. Hôp. Paris 34, 525 (1958).
Lamy, M., M. L. Jammet et N. Ajjan: Arthrogrypose ou syndrome arthrogryposique? A propos de dix observations. Sem. Hôp. Paris 41, 2419 (1965).
Lange, C. de: Studien über angeborene Lähmungen bzw. angeborene Hypotonie. Acta paediat. (Uppsala) 20 (Suppl. III), 33 (1937).
Lelong, M., P. Canlorbe, Le Tan-Vinh, J. C. Dalloz, J. L. Corbin et J. Vassal: Myopathie chez une fille de 9 ans revélée à la naissance par une hypotonie musculaire généralisée. Arch. franç. Pédiat. 19, 581 (1962).
Lereboullet, P., et A. Baudouin: Un cas de myatonie congénitale avec autopsie. Bul. Soc. Méd. Hôp. Paris 27, 1162 (1909).
Levesque, J., F. Lepage, M. Boeswillwald et J. Grüner: Deux cas de dystrophie musculaire familiale congénitale simulant une maladie de Werdnig-Hoffmann-Oppenheim. Arch. franç. Pédiat. 13, 202 (1956).
Middleton, D. S.: Studies on prenatal lesions of striated muscle as a cause of congenital deformity. Edinb. med. J. N. S. 41, 401 (1934).
Mumenthaler, M.: Die histologische Diagnostik der progressiven Muskeldystrophie. In: ERB-Symposium. S. 19–31. Berlin-Heidelberg-New York: Springer 1966.
Oppenheim, H.: Über allgemeine und localisierte Atonie der Muskulatur (Myatonie) im frühen Kindesalter. Mschr. Psychiat. Neurol. 8, 232 (1900).
Pearson, C. M., and G. M. Fowler jr.: Hereditary non-progressive muscular dystrophy inducing arthrogryposis syndrome. Brain 86, 75 (1963).
—, N. C. Kar, J. B. Peter, and T. L. Munsat: Muscle lactate dehydrogenase patterns in two types of X-linked muscular dystrophy. Amer. J. Med. 39, 91 (1965).
Rabe, E. F.: The hypotonic infant. A review. J. Pediat. 64, 422 (1964).
Short, J. K.: Congenital muscular dystrophy. A case report with autopsy findings. Neurology (Minneap.) 13, 526 (1963).
Shy, G. M., and K. R. Magee: A new congenital non-progressive myopathy. Brain 79, 610 (1956).
— W. K. Engel, J. E. Somers, and T. Wanko: Nemaline myopathy. A new congenital myopathy. Brain 86, 793 (1963).
Spiro, A. J., G. M. Shy, and N. K. Gonatas: Myotubular myopathy. Arch. Neurol. (Chic.) 14, 1 (1966).
Turner, J. W. A.: The relationship between amyotonia congenita and congenital myopathy. Brain 63, 163 (1940).
— and F. Lees: Congenital myopathy. A fifty-year follow-up. Brain 85, 733 (1962).
Vassella, F., R. Richterich, and E. Rossi: The diagnostic value of serum creatine kinase in neuromuscular and muscular disease. Pediatrics 35, 322 (1965).
Vestermark, B.: Arthrogryposis multiplex congenita. A case of neurogenic origin. Acta paediat. scand. 55, 117 (1966).
Vogel, F.: Lehrbuch der allgemeinen Humangenetik. Berlin-Göttingen-Heidelberg: Springer 1961.
Walton, J. N.: The limp child. J. Neurol. Neurosurg. Psychiat. 20, 144 (1957).
— The “floppy” infant. Cer. Palsy Bull. 2, 10 (1960).
Weber, J. W.: Kardiale Befunde bei progressiver Muskeldystrophie. Päd. Fortbildungskurse 18, 36 (1966).
Wharton, B. A.: An unusual variety of muscular dystrophy. Lancet 1965/I, 248.
Wiesmann, U., R. Richterich u. M. Mumenthaler: Kreatinkinase und Lactatdehydrogenase-Isoenzyme im Muskel bei neurogenen und muskulären Affektionen. Klin. Wschr. 43, 579 (1965).
Zellweger, H.: Congenital myopathies and their differentialdiagnosis. Päd. Fortbildungskurse 18, 105 (1966).
— J. W. Smith, and M. Cusminsky: Muscular hypotonia in infancy; diagnosis and differentiation. Rev. canad. Biol. 21, 599 (1962).
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Vassella, F., Mumenthaler, M., Rossi, E. et al. Die kongenitale muskeldystrophie. Deutsche Zeitschrift f. Nervenheilkunde 190, 349–374 (1967). https://doi.org/10.1007/BF00243530
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DOI: https://doi.org/10.1007/BF00243530