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The Muscular Dystrophies and Related Disorders: Title and subTitle BreakI. The Muscular Dystrophies FREE

Tetsuo Furukawa, MD; James B. Peter, MD, PhD
[+] Author Affiliations

This is part 1 of two parts. Part 2 will be published in the April 21, 1978, issue of The Journal.


JAMA. 1978;239(15):1537-1542. doi:10.1001/jama.1978.03280420073025
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Published online

THE MUSCULAR dystrophies may have a history dating back many centuries. Pöch and Becker1 suggested that one of the ancient Egyptian sculptures (around 1500 BC) represented persons possibly affected with muscular dystrophy. However, medical descriptions of the disease appeared in the 19th century, which included probably the first recognizable clinical description by Charles Bell2 in 1830, the pathological observations by Partridge3 in 1847, and the meticulous definition of clinical and autopsy findings by Meryon4 in 1852.

After several distinguished descriptions of the disorders by Duchenne,5 Gowers,6 Landouzy and Déjèrine,7 and others, Wilhelm Erb8 published his classical article, which clearly established the disease as an entity. He coined "dystrophia muscularis progressiva" for this disease. The term was subsequently modified slightly to "dystrophia musculorum progressiva."

A great deal of knowledge concerning muscular dystrophies has been accumulated for a century. Progress of research on the muscular

REFERENCES

Pöch H, Becker PE:  Eine Muskeldystrophie auf einem altägyptischen Relief . Nervenarzt 26:528-530, 1955;.
Bell C: The Nervous System of the Human Body . London, Longman, 1830;.
Partridge:  Fatty degeneration of voluntary muscles . Trans Pathol Soc London 1:334, 1846;-1848.
Meryon E:  On granular and fatty degeneration of the voluntary muscles . Med-Chir Trans 35:73-84, 1852;.
Duchenne GB:  Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérosique . Arch Gen Med 11:5-25, 179-209, 305-321, 421-443, 552-558, 1868;.
Gowers WR: Pseudohypertrophic Muscular Paralysis . London, J & A Churchill Ltd, 1879;.
Landouzy L, Déjèrine J:  De la myopathie atrophique progressive: Myopathie sans neuropathie débutant d'ordinaire dans l'enfance, par la face . Rev Med 5:81-117, 253-366,1885; 6:977-1027, 1886;.
Erb W:  Dystrophia muscularis progressiva: Klinische und pathologischanatomische Studien . Dtsch Z Nervenheilk 1:13-94, 173-261, 1891;.
Zundel WS, Tyler FH:  The muscular dystrophies . N Engl J Med 273:537-543, 596-601, 1965;.
Munsat TL:  The classification of human dystrophies , in Pathogenesis of Human Muscular Dystrophies , Excerpta Medica International Congress series, 404. Amsterdam, Excerpta Medica Foundation, 1977;, pp 23-31.
Tyler FH, Wintrobe MM:  Studies in disorders of muscle: I. The problem of progressive muscular dystrophy . Ann Intern Med 32:72-79, 1950;.
Stevenson AC:  Muscular dystrophy in Northern Ireland . Ann Eugen 18:50-93, 1953;.
Becker PE:  Dystrophia musculorum progressiva , in Eine genetische und Klinische Untersuchung der Muskeldystrophien . Stuttgart, West Germany, Thieme, 1953;.
Becker PE:  Neue Ergebnisse der Genetik der Muskeldystrophien . Acta Genet 7:303-320, 1957;.
Walton JN, Nattrass FJ:  On the classification, natural history and treatment of the myopathies . Brain 77:169-231, 1954;.
 Classification of the neuromuscular disorders: Appendix A to the minutes of the meeting of the research group on neuromuscular diseases, held in Montreal, Canada, on September 21, 1967 . J Neurol Sci 6:165-177, 1968;.
Becker PE, Kiener F:  Eine neue x-chromosomale Muskeldystrophie . Arch Psychiatr Z Neurol 193:427-448, 1955;.
Becker PE:  Two new families of benign sex-linked recessive muscular dystrophy . Rev Can Biol 21:551-566, 1962;.
Zellweger H, Hanson JW:  Slowly progressive X-linked recessive muscular dystrophy (type III) . Arch Intern Med 120:525-535, 1967;.
Markand ON, North RP, D'Agostino AN, et al:  Benign sex-linked muscular dystrophy . Neurology 19:617-633, 1969;.
Shaw RF, Scotia N, Dreifuss FE:  Mild and severe forms of X-linked muscular dystrophy . Arch Neurol 20:451-460, 1969;.
Emery AEH, Skinner R:  Clinical studies in benign (Becker type) X-linked muscular dystrophy . Clin Genet 10:189-201, 1976;.
Emery AEH, Dreifuss FE:  Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 29:338-342, 1966;.
Mabry CC, Roeckel IE, Munich RL, et al:  X-linked pseudohypertrophic muscular dystrophy with a late onset and slow progression . N Engl J Med 273:1062-1070, 1965;.
Walton JN:  Clinical aspects of human muscular dystrophy , in Bourne GH, Golarz MN (eds): Muscular Dystrophy in Man and Animals . Switzerland, Hafner Publishing Co, 1963;, pp 263-321.
Walton JN, Gardner-Medwin D:  Progresssive muscular dystrophy and the myotonic disorders , in Walton JN (ed): Disorders of Voluntary Muscle , ed 3. Edinburgh, Churchill Livingstone, 1974;, pp 561-613.
Walton JN:  Carrier detection in X-linked muscular dystrophy . J Genet Hum 17:497-510, 1969;.
Walton JN:  The inheritance of muscular dystrophy: Further observations . Ann Hum Genet 21:40-60, 1956;.
Furukawa T, Peter JB:  X-linked muscular dystrophy . Ann Neurol 2:414-416, 1977;.
Emery AEH, Smith CAB, Sanger R:  The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups . Ann Hum Genet 32:261-269, 1969;.
Skinner R, Smith C, Emery AEH:  Linkage between the loci for benign (Becker type) Xborne muscular dystrophy and deutan colour blindness . J Med Genet 11:317-320, 1974;.
Zatz M, Itskan SB, Sanger R, et al:  New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness and Xg blood groups . J Med Genet 11:321-327, 1974;.
McKusick VA:  On the X-chromosome of man . Q Rev Biol 37:69-175, 1962;.
Lyon MF:  Evolution of X-chromosome inactivation in mammals . Nature 250:651-653, 1974;.
Emery AEH, Spikesman A:  Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy . J Neurol Sci 10:523-533, 1970;.
Lyon MF:  Sex chromatin and gene action in mammalian X-chromosome . Am J Hum Genet 14:135-148, 1962;.
Roses AD, Roses MJ, Miller SE, et al:  Carrier detection in Duchenne muscular dystrophy . N Engl J Med 294:193-198, 1976;.
Justin-Basançon L, Péquignot H, Contamin F, et al:  Myopathie du type Landouzy-Déjèrine: Rapport d'une observation historique . Sem Hop Paris 40:2990-2999, 1964;.
Hanson PA, Rowland LP:  Möbius syndrome and facioscapulohumeral muscular dystrophy . Arch Neurol 24:31-39, 1971;.
Tyler FH, Stephens FE:  Studies in disorders of muscle: II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in large family . Ann Intern Med 32:640-660, 1950;.
Bloomfield DA, Sinclair-Smith BC:  Persistent atrial paralysis . Am J Med 39:335-340, 1965;.
Baldwin BJ, Talley RC, Johnson C, et al:  Permanent paralysis of the atrium in a patient with facioscapulohumeral muscular dystrophy . Am J Cardiol 31:649-653, 1973;.
Siegel IM:  Early signs of Landouzy-Déjèrine disease: Wrist and finger weakness . JAMA 221:302, 1972;.
Kazakov VM, Bogorodinsky DK, Znoyko Z, et al:  The facio-scapulo-limb (or the facioscapulohumeral) type of muscular dystrophy . Eur Neurol 11:236-260, 1974;.
Kazakov VM, Bogorodinsky DK, Skorometz AA:  Myogenic scapuloperoneal syndrome: Muscular dystrophy  in the K. kindred. Eur Neurol 13:350-359, 1975;.
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Mendell JR, Murphy DL, Engel WK:  Catecholamines and indoleamines in patients with Duchenne muscular dystrophy . Arch Neurol 27:518-520, 1972;.
Meltzer HY:  Skeletal muscle necrosis following membrane-active drugs plus serotonin . J Neurol Sci 28:41-56, 1976;.
McComas AJ, Sica REP, Cambell MJ:  "Sick" motoneurones: A unifying concept of muscle disease . Lancet 1:321-325, 1971;.
McComas AJ, Sica REP, Upton ARM:  Multiple muscle analysis of motor units in muscular dystrophy . Arch Neurol 30:249-251, 1974;.
Rowland LP:  Sick motor neurons and muscle disease . Ann NY Acad Sci 228:281-282, 1974;.
Sakakibara H, Engel AG, Lambert EH:  Duchenne dystrophy: Ultrastructural localization of the acetylcholine receptor and intracellular microelectrode studies of neuromuscular transmission . Neurology 27:741-745, 1977;.
Brown HD, Chattopadhyay SK, Patel AB:  Erythrocyte abnormality in human myopathy . Science 157:1577-1578, 1967;.
Peter JB, Worsfold M, Pearson CM:  Erythrocyte ghost adenosine triphosphatase (ATPase) in Duchenne dystrophy . J Lab Clin Med 74:103-108, 1969;.
Araki S, Mawatari S:  Ouabain and erythrocyte ghost adenosine triphosphatase effects in human muscular dystrophies . Arch Neurol 24:187-190, 1971;.
Kunze D, Reichmann G, Egger E, et al:  Erythrozytenlipide bei progressiver Muskeldystrophie . Clin Chim Acta 43:333-341, 1973;.
Matheson DW, Howland JL:  Erythrocyte deformation in human muscular dystrophy . Science 184:165-166, 1974;.
Peter JB:  The etiology of Duchenne muscular dystrophy: The biochemical evidence , in Bradley WG (ed): Recent Advances in Myology . Amsterdam, Excerpta Medica Foundation, 1974;, pp 148-152.
Rowland LP:  Pathogenesis of muscular dystrophies . Arch Neurol 33:315-321, 1976;.
Peter JB, Furukawa T:  Biochemical aspects of muscular disorders , in Annual Reports in Medicinal Chemistry . New York, Academic Press Inc, 1977;, vol 12, chap 25, p 260.
Golarz MN, Bourne GH:  The histochemistry of muscular dystrophy , in Muscular Dystrophy in Man and Animals . New York, Hafner Publishing Co Inc, 1963;, chap 16, pp 89-157.
Cazzato G:  Consideration about a possible role played by connective tissue proliferation and vascular disturbance in the pathogenesis of progressive muscular dystrophy . Eur Neurol 1:158-179, 1968;.

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Pöch H, Becker PE:  Eine Muskeldystrophie auf einem altägyptischen Relief . Nervenarzt 26:528-530, 1955;.
Bell C: The Nervous System of the Human Body . London, Longman, 1830;.
Partridge:  Fatty degeneration of voluntary muscles . Trans Pathol Soc London 1:334, 1846;-1848.
Meryon E:  On granular and fatty degeneration of the voluntary muscles . Med-Chir Trans 35:73-84, 1852;.
Duchenne GB:  Recherches sur la paralysie musculaire pseudo-hypertrophique ou paralysie myo-sclérosique . Arch Gen Med 11:5-25, 179-209, 305-321, 421-443, 552-558, 1868;.
Gowers WR: Pseudohypertrophic Muscular Paralysis . London, J & A Churchill Ltd, 1879;.
Landouzy L, Déjèrine J:  De la myopathie atrophique progressive: Myopathie sans neuropathie débutant d'ordinaire dans l'enfance, par la face . Rev Med 5:81-117, 253-366,1885; 6:977-1027, 1886;.
Erb W:  Dystrophia muscularis progressiva: Klinische und pathologischanatomische Studien . Dtsch Z Nervenheilk 1:13-94, 173-261, 1891;.
Zundel WS, Tyler FH:  The muscular dystrophies . N Engl J Med 273:537-543, 596-601, 1965;.
Munsat TL:  The classification of human dystrophies , in Pathogenesis of Human Muscular Dystrophies , Excerpta Medica International Congress series, 404. Amsterdam, Excerpta Medica Foundation, 1977;, pp 23-31.
Tyler FH, Wintrobe MM:  Studies in disorders of muscle: I. The problem of progressive muscular dystrophy . Ann Intern Med 32:72-79, 1950;.
Stevenson AC:  Muscular dystrophy in Northern Ireland . Ann Eugen 18:50-93, 1953;.
Becker PE:  Dystrophia musculorum progressiva , in Eine genetische und Klinische Untersuchung der Muskeldystrophien . Stuttgart, West Germany, Thieme, 1953;.
Becker PE:  Neue Ergebnisse der Genetik der Muskeldystrophien . Acta Genet 7:303-320, 1957;.
Walton JN, Nattrass FJ:  On the classification, natural history and treatment of the myopathies . Brain 77:169-231, 1954;.
 Classification of the neuromuscular disorders: Appendix A to the minutes of the meeting of the research group on neuromuscular diseases, held in Montreal, Canada, on September 21, 1967 . J Neurol Sci 6:165-177, 1968;.
Becker PE, Kiener F:  Eine neue x-chromosomale Muskeldystrophie . Arch Psychiatr Z Neurol 193:427-448, 1955;.
Becker PE:  Two new families of benign sex-linked recessive muscular dystrophy . Rev Can Biol 21:551-566, 1962;.
Zellweger H, Hanson JW:  Slowly progressive X-linked recessive muscular dystrophy (type III) . Arch Intern Med 120:525-535, 1967;.
Markand ON, North RP, D'Agostino AN, et al:  Benign sex-linked muscular dystrophy . Neurology 19:617-633, 1969;.
Shaw RF, Scotia N, Dreifuss FE:  Mild and severe forms of X-linked muscular dystrophy . Arch Neurol 20:451-460, 1969;.
Emery AEH, Skinner R:  Clinical studies in benign (Becker type) X-linked muscular dystrophy . Clin Genet 10:189-201, 1976;.
Emery AEH, Dreifuss FE:  Unusual type of benign X-linked muscular dystrophy . J Neurol Neurosurg Psychiatry 29:338-342, 1966;.
Mabry CC, Roeckel IE, Munich RL, et al:  X-linked pseudohypertrophic muscular dystrophy with a late onset and slow progression . N Engl J Med 273:1062-1070, 1965;.
Walton JN:  Clinical aspects of human muscular dystrophy , in Bourne GH, Golarz MN (eds): Muscular Dystrophy in Man and Animals . Switzerland, Hafner Publishing Co, 1963;, pp 263-321.
Walton JN, Gardner-Medwin D:  Progresssive muscular dystrophy and the myotonic disorders , in Walton JN (ed): Disorders of Voluntary Muscle , ed 3. Edinburgh, Churchill Livingstone, 1974;, pp 561-613.
Walton JN:  Carrier detection in X-linked muscular dystrophy . J Genet Hum 17:497-510, 1969;.
Walton JN:  The inheritance of muscular dystrophy: Further observations . Ann Hum Genet 21:40-60, 1956;.
Furukawa T, Peter JB:  X-linked muscular dystrophy . Ann Neurol 2:414-416, 1977;.
Emery AEH, Smith CAB, Sanger R:  The linkage relations of the loci for benign (Becker type) X-borne muscular dystrophy, colour blindness and the Xg blood groups . Ann Hum Genet 32:261-269, 1969;.
Skinner R, Smith C, Emery AEH:  Linkage between the loci for benign (Becker type) Xborne muscular dystrophy and deutan colour blindness . J Med Genet 11:317-320, 1974;.
Zatz M, Itskan SB, Sanger R, et al:  New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness and Xg blood groups . J Med Genet 11:321-327, 1974;.
McKusick VA:  On the X-chromosome of man . Q Rev Biol 37:69-175, 1962;.
Lyon MF:  Evolution of X-chromosome inactivation in mammals . Nature 250:651-653, 1974;.
Emery AEH, Spikesman A:  Evidence against the existence of a subclinical form of X-linked Duchenne muscular dystrophy . J Neurol Sci 10:523-533, 1970;.
Lyon MF:  Sex chromatin and gene action in mammalian X-chromosome . Am J Hum Genet 14:135-148, 1962;.
Roses AD, Roses MJ, Miller SE, et al:  Carrier detection in Duchenne muscular dystrophy . N Engl J Med 294:193-198, 1976;.
Justin-Basançon L, Péquignot H, Contamin F, et al:  Myopathie du type Landouzy-Déjèrine: Rapport d'une observation historique . Sem Hop Paris 40:2990-2999, 1964;.
Hanson PA, Rowland LP:  Möbius syndrome and facioscapulohumeral muscular dystrophy . Arch Neurol 24:31-39, 1971;.
Tyler FH, Stephens FE:  Studies in disorders of muscle: II. Clinical manifestations and inheritance of facioscapulohumeral dystrophy in large family . Ann Intern Med 32:640-660, 1950;.
Bloomfield DA, Sinclair-Smith BC:  Persistent atrial paralysis . Am J Med 39:335-340, 1965;.
Baldwin BJ, Talley RC, Johnson C, et al:  Permanent paralysis of the atrium in a patient with facioscapulohumeral muscular dystrophy . Am J Cardiol 31:649-653, 1973;.
Siegel IM:  Early signs of Landouzy-Déjèrine disease: Wrist and finger weakness . JAMA 221:302, 1972;.
Kazakov VM, Bogorodinsky DK, Znoyko Z, et al:  The facio-scapulo-limb (or the facioscapulohumeral) type of muscular dystrophy . Eur Neurol 11:236-260, 1974;.
Kazakov VM, Bogorodinsky DK, Skorometz AA:  Myogenic scapuloperoneal syndrome: Muscular dystrophy  in the K. kindred. Eur Neurol 13:350-359, 1975;.
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