Hostname: page-component-78c5997874-g7gxr Total loading time: 0 Render date: 2024-11-19T12:33:09.017Z Has data issue: false hasContentIssue false
  • English
  • Français

The Neural Hypothesis of Muscular Dystrophy — A Review of Recent Experimental Evidence with particular reference to the Duchenne form

Published online by Cambridge University Press:  18 September 2015

R.E.P. Sica  and
A.J. McComas
R.E.P. Sica
Affiliation:
MRC Group in Developmental Neurobiology and Department of Medicine (Neurology), McMaster University, Hamilton, Ontario, Canada
A.J. McComas*
Affiliation:
MRC Group in Developmental Neurobiology and Department of Medicine (Neurology), McMaster University, Hamilton, Ontario, Canada
*
Room 4U7, McMaster University Medical Centre, 1200 Main St. West, Hamilton, Ontario, Canada L8S 4J9.
Rights & Permissions [Opens in a new window]

Summary:

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Recent observations are considered to provide further evidence for an abnormality involving motoneurones in DMD. The dystrophic process appears to take place in two stages of which the first occurs during early embryonic life. This stage is thought to involve faulty inductive actions of the neural tube upon mesoderm and upon itself. The neural consequences vary among individuals and are manifested as mental retardation, EEG abnormalities and losses of functioning motor units. While the first two abnormalities are non-progressive, a further loss of motor units, associated with striking reductions in the numbers of excitable muscle fibers, takes place in trunk and large limb muscles at 9-12 years. The latter process, the cause of which is uncertain, constitutes the second stage of DMD.

Type
Research Article
Information
Canadian Journal of Neurological Sciences , Volume 5 , Issue 2 , May 1978 , pp. 189 - 197
Copyright
Copyright © Canadian Neurological Sciences Federation 1978

References

REFERENCES

Ballantyne, J.P. and Hansen, S. (1974). New method for the estimation of the number of motor units in a human muscle. 2. Duchenne, limb-girdle and facioscapulohumeral, and myotonic muscular dystrophies. Journal of Neurology, Neurosurgery and Psychiatry, 37, 1195–1201.CrossRefGoogle Scholar
Ballantyne, J.P. and Hansen, S. (1975). Computer method for the analysis of evoked motor unit potentials. 2. Duchenne, limb-girdle, facioscapulohumeral and myotonic muscular dystrophies. Journal of Neurology, Neurosurgery and Psychiatry, 38, 417–428.CrossRefGoogle ScholarPubMed
Brown, W.F., Milner-Brown, H.S. and Drake, J. (1975). Sources of error in methods for estimating motor unit numbers. In Recent Advances in Myology, edited by Bradley, W.G.Gardner-Medwin, D. and Walton, J.N. pp. 152–166. Excerpta Medica: Amsterdam.Google Scholar
Buchthal, F. and Rosenfalck, An-nelise (1966). Spontaneous electrical activ-ity of human muscle. Electroencephalography and Clinical Neurophysiology, 20, 321–336.CrossRefGoogle Scholar
Cosmos, Ethel (1973). Muscle-nerve transplants. Experimental models to study influences on differentiation. Physiologist, 16, 167–177.Google ScholarPubMed
Dastur, D.K. and Razzak, Z.A. (1973). Possible neurogenic factor in muscular dystrophy: its similiarity to denervation atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 36, 399–410.CrossRefGoogle Scholar
Desmedt, J.E. and Borenstein, S. (1973). Collateral reinnervation of muscle fibers by motor axons of dystrophic motor units. Nature (London), 246, 500–501.Google Scholar
Douglas, W.B. and Cosmos, , Ethel (1975). Histochemical responses of dystrophic murine muscles cross-innervated by sciatic nerves of normal mice. In Exploratory Concepts in Muscular Dystrophy II, edited by Milhorat, A.T. pp. 374–380. Excerpta Medica: Amsterdam.Google Scholar
Drachman, D.B. and Fambrough, D.M. (1976). Are muscle fibers denervated in myotonic dystrophy? Archives of Neurology, 33, 485–488.CrossRefGoogle ScholarPubMed
Engel, W.K. (1977). Integrative histochemical approach to the defect of Duchenne muscular dystrophy. In Exploratory Concepts in Muscular Dystrophy III, edited by Rowland, L.P.277–309. Excerpta Medica : Amsterdam.Google Scholar
Fewings, J.D., Harris, J.B., Johnson, M.A. and Bradley, W.G. (1977). Progressive denervation of skeletal muscle induced by spinal irradiation in rats. Brain, 100, 157–183.CrossRefGoogle ScholarPubMed
Grampp, W., Harris, J.B. and Thesleff, S. (1972). Inhibition of denervation changes in skeletal muscle by blockers of protein synthesis. Journal of Physiology, 221, 743–754.CrossRefGoogle ScholarPubMed
Gurdon, J.B. (1968). Transplanted nuclei and cell differentiation. Scientific Ameri-can, 219, 24–35.CrossRefGoogle ScholarPubMed
Hironaka, T. and Miyata, Y. (1975). Transplantation of skeletal muscle in normal and dystrophic mice. Experimental Neurology, 47, 1–15.CrossRefGoogle ScholarPubMed
Jerusalem, F., Engle, A.G. and Gomez, M.R. (1974). Duchenne dystrophy. II. Morphometric study of motor end-plate fine structure. Brain, 97, 115–122.CrossRefGoogle ScholarPubMed
Johnson, Margaret A. and Montgomery, A. (1976). Parabiotic reinnervation in normal and myopathic (BIO 14.6) hamsters. Journal of the Neurological Sciences, 27, 201–215.CrossRefGoogle ScholarPubMed
JohnsonMargaret, A. Margaret, A., Polgar, J., Weightman, Dorothy and Appleton, D. (1973). Data on the distribution of fiber types in thirty-six human muscles. Journal of the Neurological Sciences, 18, 111–129.CrossRefGoogle ScholarPubMed
Lapresle, J., Fardeau, A. and Said, G. (1973). L’hypertrophie musculaire vraie secondaire à une atteinte nerveuse périphérique. Etude clinique et histologique d’une observation d’hypertrophie du mollet consecutive à une sciatique. Revue Neurologique, 128, 153–160.Google Scholar
Law, P.K., Cosmos, Ethel, Butler, Jane and McComas, A.J. (1976). The absence of dystrophic characteristics in normal muscles successfully cross-reinnervated by nerves of dystrophic genotype: physiological and cytochemical study of crossed solei of normal and dystrophic parabiotic mice. Experimental Neurology, 51, 1–21.CrossRefGoogle ScholarPubMed
Lehtonen, E. (1976). Transmission of signals in embryonic induction. Medical Biology, 54, 108–128.Google Scholar
Linkhart, T.A., Yee, G.W.Wilson, B.W. (1975). Myogenic defect in acetylcholinesterase regulation in muscular dystrophy of the chicken. Science, N.Y. 187, 549–550.Google Scholar
McComas, A.J. (1975). The nerual hypothesis. In Recent Advances in Myology, edited by Bradley, W.G.Gardner-Medwin, D. and Walton, J.N. pp. 152–158. Excerpta Medica: Amsterdam.Google Scholar
McComas, A.J. (1977). Neuromuscular Function and Disorders. Butterworths: London.Google Scholar
McComas, A.J., Campbell, M.J. and Sica, R.E.P. (1971a). Electrophysiologi-cal study of dystrophia myotonica. Journal of Neurology, Neurosurgery and Psychiatry, 34, 132–139.CrossRefGoogle Scholar
McComas, A.J., Fawcett, P.R.W., Sica, R.E.P. and Campbell, M.J. (1971b). Electrophysiological estimation of the number of motor units within a human muscle. Journal of Neurology, Neurosurgery and Psychiatry, 34, 121–131.CrossRefGoogle ScholarPubMed
McComas, A.J., Sica, R.E.P. and Brandstater, M.E. (1977). Further motor unit studies in Duchenne dystrophy. Journal of Neurology, Neurosurgery and Psychiatry, 40, 1147–1151.CrossRefGoogle Scholar
McComas, A.J., Sica, R.E.P. and Campbell, M.J. (1971c). ‘Sick’ motoneurones. A unifying concept of muscle disease. Lancet, 1, 321–325.CrossRefGoogle ScholarPubMed
McComas, A.J., Sica, R.E.P. and Currie, S. (1970). Evidence for a neural factor in muscular dystrophy. Nature, (London), 226, 1263–1264.Google Scholar
McComas, A.J., Sica, R.E.P. and Currie, S. (1971d). An electrophysiological study of Duchenne dystrophy. Journal of Neurology, Neurosurgery and Psychiatry, 34, 461–468.CrossRefGoogle ScholarPubMed
McComas, A.J., Sica, R.E.P. and Petito, F. (1973). Muscle strength in boys of different ages. Journal of Neurol-ogy, Neurosurgery and Psychiatry, 36, 171–173.CrossRefGoogle ScholarPubMed
McComas, A.J., Upton, A.R.M. and Jorgensen, P.B. (1975). Patterns of motoneurone dysfunction and recovery. Canadian Journal of Neurological Sciences, 2, 5–15.CrossRefGoogle ScholarPubMed
Montgomery, A. (1975). Parabiotic reinnervation in normal and dystrophic mice. 1. Muscle weight and physiological studies. Journal of the Neurological Sciences, 26, 401–423.CrossRefGoogle ScholarPubMed
Montgomery, A. and Swenarchuk, L. (1977). Dystrophic mice show age related muscle fiber and myelinated axon losses. Nature (London). 267, 167–169.Google Scholar
Mokri, B. and Engel, A.G. (1975). Duchenne dystrophy: electron microscopic findings pointing to a basic or early abnor-maility in the plasma membrane of the sarcolemma. Neurology (Minneapolis), 25, 1110–1120.Google Scholar
Panayiotopoulos, C.P., Scarpalezos, S. and Papapet-Ropoulos, T. (1974). Electrophysiological estimation of motor units in Duchenne muscular dystrophy. Journal of the Neurological Sciences, 23, 89–98.CrossRefGoogle ScholarPubMed
Polgar, J.G., Bradley, W.G., Upton, A.R.M., Anderson, J., Howat, J.M.L., Petito, F., Roberts, D.F. and Scopa, J. (1972). The early detection of dystrophia myotonica. Brain, 95, 761–776.CrossRefGoogle ScholarPubMed
Pollock, M. and Dyck, P.J. (1976). Peripheral nerve morphometry in myotonic dystrophy. Archives of Neurology, 33, 33–39.CrossRefGoogle ScholarPubMed
Rathbone, M.P., Dimond, Patricia A. and Vetrano, F. (1975). Dystrophic spi-nal cord transplants induce abnormal thymidine kinase activity in normal muscles. Science, N.Y., 189, 1106–1107.Google Scholar
Rathbone, M.P., Stewart, Patricia A. and Vickers, J.D. (1976). Neural regulation of cholesterol levels in muscles of genetically dystrophic chickens. Society for Neurosciences, 6th Annual Meeting, Toronto, Abstract no. 1498.Google Scholar
Ringel, S.P., Bender, A.N. and Engel, W.K. (1976). Extrajunctional acetylcholine receptors. Alterations in human and experimental neuromuscular diseases. Archives of Neurology, 33, 751–758.CrossRefGoogle ScholarPubMed
Roses, A.D., Herbstreith, M.H. and Appel, S.H. (1975). Membrane protein kinase alteration in Duchenne muscular dystrophy. Nature (London), 254, 350–351.Google Scholar
Rowland, L.P. (1976). Pathogenesis of muscular dystrophies. Archives of Neurol-ogy, 33, 315–321.CrossRefGoogle ScholarPubMed
Schwartz, M.S., Moosa, A. and Dubowitz, V. (1977). Correlation of single fibre EMG and muscle histochemistry using an open biopsy recording technique. Journal of the Neurological Sciences, 31, 369–378.CrossRefGoogle ScholarPubMed
Sica, R.E.P. and McComas, A.J. (1971). An electrophysiological investigation of limb-girdle and facioscapulohumeral dystrophy. Journal of Neurology, Neurosurgery and Psychiatry, 34, 469–474.CrossRefGoogle ScholarPubMed
Spemann, H. (1903). Ueber die Linsenbil-dung bei defekter Augenblase. Anatomischer Anzeiger, Jena, 23, 457–464.Google Scholar
Spemann, H. and Mangold, H. (1924). Ueber Induktion von Embryonalanlagen durch Implantation artfremder Organisato-ren. Archiv fur mikroscopische Anatomie, 100, 599–638. Cited by Balinsky, B.I. in An Introduction to Embryology, 3rd edition, ch. 10, p. 250. Saunders: Philadelphia.Google Scholar
Stalberg, E. (1977). Electrogenesfs in human dystrophic muscle. In Exploratory Concepts in Muscular Dystrophy, III, edited by Rowland, L.P.Excerpta Medica: Amsterdam.Google Scholar
Tomlinson, B.E., Walton, J.N. and Irving, Dorothy (1974). Spinal cord limb motor neurones in muscular dystrophy. Journal of the Neurological Sciences, 22, 305–327.CrossRefGoogle ScholarPubMed
Zellweger, H. and Hanson, J.W. (1967). Psychometric studies in muscular dystrophy, Type Ilia (Duchenne). Developmental Medicine and Child Neurology, 9, 576–581.CrossRefGoogle Scholar