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PROGRESSIVE NEUROPATHIC (PERONEAL) MUSCULAR ATROPHY (CHARCOT-MARIE-TOOTH DISEASE): Histological Findings in Muscle Biopsy Specimens in Fourteen Cases, with Notes on Clinical Diagnosis and Familial Occurrence

PROGRESSIVE NEUROPATHIC (PERONEAL) MUSCULAR ATROPHY (CHARCOT-MARIE-TOOTH DISEASE): Histological... Abstract THERE seems to be a general feeling among neurologists that one is justified in considering as a disease entity the condition variously called "peroneal muscular atrophy of the Charcot-Marie-Tooth type," "progressive neuritic muscular atrophy," or "spinal neuritic form of progressive muscular atrophy." The weight of available evidence concerning its etiology, most recently reviewed by England and Denny-Brown,1 is in favor of an affection of the spinal cord and of peripheral nerves being the primary process, the muscular changes being secondary; but few autopsy reports are found in the literature. However, biopsy of affected muscles may give information of interest, since it is now well established that the histological changes in the muscles in progressive muscular dystrophies differ in certain respects from those occurring in diseases involving primarily the peripheral motor neurons, such as amytrophic lateral sclerosis, progressive spinal muscular atrophy, syringomyelia, and poliomyelitis.2 Brodal and Refsum3 described References 1. England, A. C., and Denny-Brown, D.: Severe Sensory Changes, and Trophic Disorder, in Peroneal Muscular Atrophy (Charcot-Marie-Tooth Type) , A. M. A. Arch. Neurol. & Psychiat. 67:1-22, 1952. 2. Slauck, A.: Beiträge zur Kenntnis der Muskelpathologie , Ztschr. ges. Neurol. u. Psychiat. 71:352-356, 1921 3. Histopathologische Untersuchungen bei neuraler Myopathie , Klin. Wchnschr. 7:2245-2247, 1928. 4. Wohlfahrt, S., and Wohlfart, G.: Mikroskopische Untersuchungen an progressiven Muskelatrophien unter besonderer Rücksichtsnahme auf Rückenmarks-und Muskelbefunde , Acta med. scaridinav. , (Supp. 63) , pp. 1-137, 1935. 5. Wohlfart, G.: Muscular Atrophy in Diseases of the Lower Motor Neuron: Contribution to the Anatomy of the Motor Units , Arch. Neurol. & Psychiat. 61:599-620, 1949. 6. Brodal, A., and Refsum, S.: Progressive Neural Muscular Atrophy (Charcot-Marie-Tooth): Case Report with Histological Examination of Excised Muscle , Acta psychiat. et neurol. 17:99-122, 1942. 7. Charcot, J. M., and Marie, P.: Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes, et atteignant plus tard les mains , Rev. méd. 6:97-138, 1886. 8. Tooth, H. H.: The Peroneal Type of Progressive Muscular Atrophy , London, H. K. Lewis & Co., Ltd., 1886. 9. Davidenkow, S.: Uber die neurotische Muskelatrophie Charcot-Marie: Klinischgenetische Studien , Ztschr. ges. Neurol. u. Psychiat. 107:259-320, 1927. 10. Pette, H.: Neurale Muskelatrophie , in Bumke, O., and Foerster, O., Editors: Handbuch der Neurologie , Vol. 16, Joseph, H., and others: Spezielle Neurologie VIII; Erkrankungen des Rückenmarks und Gehirns VI; Angeborene, früherworbene, heredofamiliäre Erkrankungen, Berlin, Springer-Verlag, 1936, pp. 497-524. 11. Häggqvist, G.: Gewebe und Systeme der Muskulatur , in von Möllendorff, W., Editor: Handbuch der mikroskopischen Anatomie des Menschen , Vol. 2, Pt. 3, Berlin, Springer-Verlag, 1931, pp. 105-237. 12. Halban, J.: Die Dicke der quergestreiften Muskelfasern und ihre Bedeutung , Anat. Hefte 3:267-308, 1893. 13. Hauck, L.: Untersuchungen zur normalen und pathologischen Histologie der quergestreiften Muskulatur , Deutsche Ztschr. Nervenh. 17:57-70, 1900. 14. von Meyenburg, H.: Die quergestreifte Muskulatur , in Henke, F., and Lubarsch, O., Editors: Handbuch der speziellen pathologischen Anatomie und Histologie , Vol. 9, Pt. 1, Berlin, Springer-Verlag, 1929, pp. 299-507. 15. Bowden, R. E. M., and Gutmann, E.: Denervation and Reinnervation of Human Voluntary Muscle , Brain 67:273-313, 1944. 16. Gutmann, E., and Young, J. Z.: Reinnervation of Muscles After Various Periods of Atrophy , J. Anat. 78:15-43, 1944. 17. Pfitzner, W.: Zur pathologischen Anatomie des Zellkerns , Arch. path. Anat. 103:275-300, 1886. 18. Forbus, W. D.: Pathologic Changes in Voluntary Muscle , Arch. Path. 2:318-339, 1926. 19. Bowden and Gutmann.12 20. Forbus.15 21. Waldeyer, W.: Über die Veränderungen der quergestreiften Muskeln bei der Entzündung und dem Typhusprozess, sowie über die Regeneration derselben nach Substanzdefecten , Arch. Path. Anat. 34:473-514, 1865. 22. Strümpell, A.: Zur Lehre von der progressiven Muskelatrophie , Deutsche Ztschr. Nervenh. 3:471-501, 1893. 23. Hassin, G. B., and Dublin, W.: Histopathology of Muscles in the Spinal Type of Progressive Muscular Atrophy , J. Neuropath. & Exper. Neurol. 4:240-249, 1945. 24. Bowden, R. E. M., and Gutmann, E.: Observations in a Case of Muscular Dystrophy, with Reference to Diagnostic Significance , Arch. Neurol. & Psychiat. 56:1-19, 1946. 25. Clark, W. E. Le Gros: An Experimental Study of the Regeneration of Mammalian Striped Muscle , J. Anat. 80: 24-36, 1946. 26. Wohlfart, G.: Dystrophia Myotonica and Myotonia Congenita: Histopathologic Studies with Special Reference to Changes in the Muscles , J. Neuropath. & Exper. Neurol. 10:109-124, 1951. 27. Lewin, A.: Zur Pathologie der progressiven Muskelatrophie und verwandter Zustände , Deutsche Ztschr. Nervenh. 2:139-176, 1892. 28. Karlstrøm, F., and Wohlfart, G.: Klinische und histopathologische Studien über infantile spinale Muskelatrophie (Oppenheimsche und Werdnig-Hoffmannsche Krankheit) , Acta psychiat. et neurol. 14:453-488, 1939.Crossref 29. Bang, J.; Einarson, L.; Fog, M., and Ringsted, A.: Treatment of Some Neuromuscular Diseases with Synthetic Vitamin E (Amyotrophic Lateral Sclerosis and Progressive Muscular Dystrophy) , Nord. med. 10:1201-1212, 1941. 30. Hipps, H. E.: Clinical Significance of Certain Microscopic Changes in Muscles of Anterior Poliomyelitis , J. Bone & Joint Surg. 24:68-80, 1942. 31. Brandt, S.: Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy: Clinical Aspects, Pathology, Heredity and Relation to Oppenheim's Amyotonia Congenita and Other Morbid Conditions with Laxity of Joints or Muscles in Infants , translated from Danish by H. Anderson, Copenhagen, Ejnar Munksgaards, Forlag, 1950 32. Course and Symptoms of Progressive Infantile Muscular Atrophy: Follow-Up Study of 112 Cases in Denmark , Arch. Neurol. & Psychiat. 63:218-228, 1950. 33. Cassirer, and Maas, O.: Beitrag zur pathologischen Anatomie der progressiven neurotischen Muskelatrophie , Deutsche Ztschr. Nervenh. 39:324-340, 1910. 34. Welander, L.: Myopathia distalis tarda hereditaria , Acta med. scandinav. (Supp.) 265: pp. 1-124, 1951. 35. Buchthal, F., and Clemmesen, S.: On the Differentiation of Muscle Atrophy by Electromyography , Acta psychiat. et neurol. 16:143-181, 1941 36. The Electromyogram of Atrophic Muscles in Cases of Intramedullar Affections , Buchthal Acta psychiat. et neurol. 18:377-388, 1943. 37. Kugelberg, E.: Electromyograms in Muscular Disorders , J. Neurol., Neurosurg. & Psychiat. 10:122-133, 1947 38. Electromyography in Muscular Dystrophies: Differentiation Between Dystrophies and Chronic Lower Motor Neurone Lesions , Kugelberg J. Neurol., Neurosurg. & Psychiat. 12:129-136, 1949. 39. Orr, W. F., and Minot, A. S.: Ribosuria: A Clinical Test for Muscular Dystrophy , A. M. A. Arch. Neurol. & Psychiat. 67:483-486, 1952. 40. Wohlfahrt and Wohlfart.2c 41. Wohlfart.2d 42. Bang and others.20 43. Karlstrøm and Wohlfart.19 44. Brandt.22 45. Feindel, W.; Hinshaw, J. R., and Weddell, G.: Pattern of Motor Innervation in Mammalian Striated Muscle , J. Anat. 86:35-48, 1952. 46. van Harreveld, A.: Structure of the Motor Units in the Rabbit's M. Sartorius , Arch. néerl. physiol. 28:408-412, 1947. 47. Tower, S. S.: Atrophy and Degeneration in Skeletal Muscle , Am. J. Anat. 56:1-43, 1935. 48. Sunderland, S., and Ray, L. J.: Denervation Changes in Mammalian Striated Muscle , J. Neurol., Neurosurg. & Psychiat. 13:159-177, 1950. 49. A strict correspondence between the degree of histological change and the duration of the disease, can, of course, not be expected. In addition to the uncertainty inherent in selecting muscles affected to the same degree clinically, the patient's information as to the time at which his disease began is a source of error. Factors of this kind may explain why the histological changes were more advanced in Case 3 than in the two following cases, in which the disease was of longer standing. However, from the case history it appears likely that a more rapid progression of the process may also have been the reason for the pronounced changes in the biopsy tissue in Case 3. 50. van Harreveld, A.: Re-Innervation of Denervated Muscle Fibers by Adjacent Functioning Motor Units , Am. J. Physiol. 144:477-493, 1945. 51. Hines, H. M.; Wehrmacher, W. H., and Thomson, J. D.: Functional Changes in Nerve and Muscle After Partial Denervation , Am. J. Physiol. 145:48-53, 1945. 52. Weiss, P., and Edds, M. V., Jr.: Spontaneous Recovery of Muscle Following Partial Denervation , Am. J. Physiol. 145:587-607, 1946. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png A.M.A. Archives of Neurology & Psychiatry American Medical Association

PROGRESSIVE NEUROPATHIC (PERONEAL) MUSCULAR ATROPHY (CHARCOT-MARIE-TOOTH DISEASE): Histological Findings in Muscle Biopsy Specimens in Fourteen Cases, with Notes on Clinical Diagnosis and Familial Occurrence

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American Medical Association
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Copyright © 1953 American Medical Association. All Rights Reserved.
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0096-6886
DOI
10.1001/archneurpsyc.1953.02320310007001
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Abstract

Abstract THERE seems to be a general feeling among neurologists that one is justified in considering as a disease entity the condition variously called "peroneal muscular atrophy of the Charcot-Marie-Tooth type," "progressive neuritic muscular atrophy," or "spinal neuritic form of progressive muscular atrophy." The weight of available evidence concerning its etiology, most recently reviewed by England and Denny-Brown,1 is in favor of an affection of the spinal cord and of peripheral nerves being the primary process, the muscular changes being secondary; but few autopsy reports are found in the literature. However, biopsy of affected muscles may give information of interest, since it is now well established that the histological changes in the muscles in progressive muscular dystrophies differ in certain respects from those occurring in diseases involving primarily the peripheral motor neurons, such as amytrophic lateral sclerosis, progressive spinal muscular atrophy, syringomyelia, and poliomyelitis.2 Brodal and Refsum3 described References 1. England, A. C., and Denny-Brown, D.: Severe Sensory Changes, and Trophic Disorder, in Peroneal Muscular Atrophy (Charcot-Marie-Tooth Type) , A. M. A. Arch. Neurol. & Psychiat. 67:1-22, 1952. 2. Slauck, A.: Beiträge zur Kenntnis der Muskelpathologie , Ztschr. ges. Neurol. u. Psychiat. 71:352-356, 1921 3. Histopathologische Untersuchungen bei neuraler Myopathie , Klin. Wchnschr. 7:2245-2247, 1928. 4. Wohlfahrt, S., and Wohlfart, G.: Mikroskopische Untersuchungen an progressiven Muskelatrophien unter besonderer Rücksichtsnahme auf Rückenmarks-und Muskelbefunde , Acta med. scaridinav. , (Supp. 63) , pp. 1-137, 1935. 5. Wohlfart, G.: Muscular Atrophy in Diseases of the Lower Motor Neuron: Contribution to the Anatomy of the Motor Units , Arch. Neurol. & Psychiat. 61:599-620, 1949. 6. Brodal, A., and Refsum, S.: Progressive Neural Muscular Atrophy (Charcot-Marie-Tooth): Case Report with Histological Examination of Excised Muscle , Acta psychiat. et neurol. 17:99-122, 1942. 7. Charcot, J. M., and Marie, P.: Sur une forme particulière d'atrophie musculaire progressive, souvent familiale, débutant par les pieds et les jambes, et atteignant plus tard les mains , Rev. méd. 6:97-138, 1886. 8. Tooth, H. H.: The Peroneal Type of Progressive Muscular Atrophy , London, H. K. Lewis & Co., Ltd., 1886. 9. Davidenkow, S.: Uber die neurotische Muskelatrophie Charcot-Marie: Klinischgenetische Studien , Ztschr. ges. Neurol. u. Psychiat. 107:259-320, 1927. 10. Pette, H.: Neurale Muskelatrophie , in Bumke, O., and Foerster, O., Editors: Handbuch der Neurologie , Vol. 16, Joseph, H., and others: Spezielle Neurologie VIII; Erkrankungen des Rückenmarks und Gehirns VI; Angeborene, früherworbene, heredofamiliäre Erkrankungen, Berlin, Springer-Verlag, 1936, pp. 497-524. 11. Häggqvist, G.: Gewebe und Systeme der Muskulatur , in von Möllendorff, W., Editor: Handbuch der mikroskopischen Anatomie des Menschen , Vol. 2, Pt. 3, Berlin, Springer-Verlag, 1931, pp. 105-237. 12. Halban, J.: Die Dicke der quergestreiften Muskelfasern und ihre Bedeutung , Anat. Hefte 3:267-308, 1893. 13. Hauck, L.: Untersuchungen zur normalen und pathologischen Histologie der quergestreiften Muskulatur , Deutsche Ztschr. Nervenh. 17:57-70, 1900. 14. von Meyenburg, H.: Die quergestreifte Muskulatur , in Henke, F., and Lubarsch, O., Editors: Handbuch der speziellen pathologischen Anatomie und Histologie , Vol. 9, Pt. 1, Berlin, Springer-Verlag, 1929, pp. 299-507. 15. Bowden, R. E. M., and Gutmann, E.: Denervation and Reinnervation of Human Voluntary Muscle , Brain 67:273-313, 1944. 16. Gutmann, E., and Young, J. Z.: Reinnervation of Muscles After Various Periods of Atrophy , J. Anat. 78:15-43, 1944. 17. Pfitzner, W.: Zur pathologischen Anatomie des Zellkerns , Arch. path. Anat. 103:275-300, 1886. 18. Forbus, W. D.: Pathologic Changes in Voluntary Muscle , Arch. Path. 2:318-339, 1926. 19. Bowden and Gutmann.12 20. Forbus.15 21. Waldeyer, W.: Über die Veränderungen der quergestreiften Muskeln bei der Entzündung und dem Typhusprozess, sowie über die Regeneration derselben nach Substanzdefecten , Arch. Path. Anat. 34:473-514, 1865. 22. Strümpell, A.: Zur Lehre von der progressiven Muskelatrophie , Deutsche Ztschr. Nervenh. 3:471-501, 1893. 23. Hassin, G. B., and Dublin, W.: Histopathology of Muscles in the Spinal Type of Progressive Muscular Atrophy , J. Neuropath. & Exper. Neurol. 4:240-249, 1945. 24. Bowden, R. E. M., and Gutmann, E.: Observations in a Case of Muscular Dystrophy, with Reference to Diagnostic Significance , Arch. Neurol. & Psychiat. 56:1-19, 1946. 25. Clark, W. E. Le Gros: An Experimental Study of the Regeneration of Mammalian Striped Muscle , J. Anat. 80: 24-36, 1946. 26. Wohlfart, G.: Dystrophia Myotonica and Myotonia Congenita: Histopathologic Studies with Special Reference to Changes in the Muscles , J. Neuropath. & Exper. Neurol. 10:109-124, 1951. 27. Lewin, A.: Zur Pathologie der progressiven Muskelatrophie und verwandter Zustände , Deutsche Ztschr. Nervenh. 2:139-176, 1892. 28. Karlstrøm, F., and Wohlfart, G.: Klinische und histopathologische Studien über infantile spinale Muskelatrophie (Oppenheimsche und Werdnig-Hoffmannsche Krankheit) , Acta psychiat. et neurol. 14:453-488, 1939.Crossref 29. Bang, J.; Einarson, L.; Fog, M., and Ringsted, A.: Treatment of Some Neuromuscular Diseases with Synthetic Vitamin E (Amyotrophic Lateral Sclerosis and Progressive Muscular Dystrophy) , Nord. med. 10:1201-1212, 1941. 30. Hipps, H. E.: Clinical Significance of Certain Microscopic Changes in Muscles of Anterior Poliomyelitis , J. Bone & Joint Surg. 24:68-80, 1942. 31. Brandt, S.: Werdnig-Hoffmann's Infantile Progressive Muscular Atrophy: Clinical Aspects, Pathology, Heredity and Relation to Oppenheim's Amyotonia Congenita and Other Morbid Conditions with Laxity of Joints or Muscles in Infants , translated from Danish by H. Anderson, Copenhagen, Ejnar Munksgaards, Forlag, 1950 32. Course and Symptoms of Progressive Infantile Muscular Atrophy: Follow-Up Study of 112 Cases in Denmark , Arch. Neurol. & Psychiat. 63:218-228, 1950. 33. Cassirer, and Maas, O.: Beitrag zur pathologischen Anatomie der progressiven neurotischen Muskelatrophie , Deutsche Ztschr. Nervenh. 39:324-340, 1910. 34. Welander, L.: Myopathia distalis tarda hereditaria , Acta med. scandinav. (Supp.) 265: pp. 1-124, 1951. 35. Buchthal, F., and Clemmesen, S.: On the Differentiation of Muscle Atrophy by Electromyography , Acta psychiat. et neurol. 16:143-181, 1941 36. The Electromyogram of Atrophic Muscles in Cases of Intramedullar Affections , Buchthal Acta psychiat. et neurol. 18:377-388, 1943. 37. Kugelberg, E.: Electromyograms in Muscular Disorders , J. Neurol., Neurosurg. & Psychiat. 10:122-133, 1947 38. Electromyography in Muscular Dystrophies: Differentiation Between Dystrophies and Chronic Lower Motor Neurone Lesions , Kugelberg J. Neurol., Neurosurg. & Psychiat. 12:129-136, 1949. 39. Orr, W. F., and Minot, A. S.: Ribosuria: A Clinical Test for Muscular Dystrophy , A. M. A. Arch. Neurol. & Psychiat. 67:483-486, 1952. 40. Wohlfahrt and Wohlfart.2c 41. Wohlfart.2d 42. Bang and others.20 43. Karlstrøm and Wohlfart.19 44. Brandt.22 45. Feindel, W.; Hinshaw, J. R., and Weddell, G.: Pattern of Motor Innervation in Mammalian Striated Muscle , J. Anat. 86:35-48, 1952. 46. van Harreveld, A.: Structure of the Motor Units in the Rabbit's M. Sartorius , Arch. néerl. physiol. 28:408-412, 1947. 47. Tower, S. S.: Atrophy and Degeneration in Skeletal Muscle , Am. J. Anat. 56:1-43, 1935. 48. Sunderland, S., and Ray, L. J.: Denervation Changes in Mammalian Striated Muscle , J. Neurol., Neurosurg. & Psychiat. 13:159-177, 1950. 49. A strict correspondence between the degree of histological change and the duration of the disease, can, of course, not be expected. In addition to the uncertainty inherent in selecting muscles affected to the same degree clinically, the patient's information as to the time at which his disease began is a source of error. Factors of this kind may explain why the histological changes were more advanced in Case 3 than in the two following cases, in which the disease was of longer standing. However, from the case history it appears likely that a more rapid progression of the process may also have been the reason for the pronounced changes in the biopsy tissue in Case 3. 50. van Harreveld, A.: Re-Innervation of Denervated Muscle Fibers by Adjacent Functioning Motor Units , Am. J. Physiol. 144:477-493, 1945. 51. Hines, H. M.; Wehrmacher, W. H., and Thomson, J. D.: Functional Changes in Nerve and Muscle After Partial Denervation , Am. J. Physiol. 145:48-53, 1945. 52. Weiss, P., and Edds, M. V., Jr.: Spontaneous Recovery of Muscle Following Partial Denervation , Am. J. Physiol. 145:587-607, 1946.

Journal

A.M.A. Archives of Neurology & PsychiatryAmerican Medical Association

Published: Jul 1, 1953

References