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The rigid spine syndrome
GUEST EDITORIAL
The Rigid Spine Syndrome Henry G. Dunn, MB, FRCP, FRCP (C)
Fibrosis is generally accepted as part of the repair process in muscular dystrophy. In fact, in sur la paralysie musculaire pseudohypertrophique or paralysie myosclerosique." However, occasional reports in the literature have referred phique ou paralysis myosclerosique." However, occasion reports in the literature have referred to cases of "myosclerosis" or "myositis fibrosa," in whom proliferation of perimysial and endomysial collagen has been a particularly marked feature, sometimes suspected of being the primary pathogenic process. Clinically, such patients present with induration and contracture of muscles; myosclerosis has also been described in familial form [4,13]. When round cell infIltration is marked, a chronic phase of polymyositis may be suspected [1,3,15], and the distinction between muscular dystrophy and polymyositis may be difficult for the pathologist. With localized contractu res ischemic muscle damage has to be exchided and focal proliferative myositis [10,12] has to be considered. Bradley and his colleagues [2] described two siblings in whom myosclerosis appeared to result from spinal muscular atrophy and who seemed to benefit from treatment with penicillamine. The authors concluded that "myosclerosis" was a syndrome arising from several different disease entities. In 1970 and 1973, Dubowitz [5,6] described a syndrome characterized by limitation of spinal flexion, associated with a widespread but From the Division of Neurology, Department of Podiatries, The University of British Columbia, Vancouver. Submitted for pUblication: August 29, 1979.
Keywords: Fibrosis, myopathy, myosclerosis, spine, spinal muscle. Correspondence address: Dr. H.G. Dunn, Department of Pediatrics, The University of British Columbia, 715 West 12th Avenue, Vancouver, B.D., V5Z IM9, Canada.
relatively nonprogressive myopathy. His four patients were all males who had little clinical weakness but were liable to develop lordosis and scoliosis; extension of elbows was also often restricted by contracture of biceps muscles. One case was still ambulant at 23, another at 18 years. The serum creatine phosphokinase level was moderately elevated. Electromyography showed a "myopathic" pattern with short duration potentials of normal amplitude. Nerve conduction velocity was normal. Biopsy of affected muscles [7] demonstrated extensive proliferation of connective tissue, variation in fiber size and some degenerating fibers; there was no evidence of polymyositis. Radiographs of the spine showed no skeletal abnormality. Dubowitz suggested the term "rigid spine syndrome" to highlight the essential clinical problem. II} one autopsy no abnormality of the central or peripheral nervous system was found _ Since then a few further cases have been described. At the Canadian Congress of Neurological Sciences in 1976 the syndrome was reported in a boy whose maternal grandmother had had a similar myopathy, and also in a girl who had a neuromyopathy, ie a fibrosing type of myopathy combined with a polyneuropathy [9]. In 1977 two cases were published who had the syndrome associated with fiber type disproportion, chiefly type I fiber hypotrophy and predominance [11,14] . At the International Congress on Neuromuscular Diseases in Montreal in 1978, D.H. Van Dyke, R.C. Griggs and R.T. Moxley presented four unrelated females who had non progressive proximal weakness with rigid spine and scoliosis. All were reported to have been weak in infancy or to have had delayed acquisition of motor skills. Biopsies showed a spectrum of pathological changes, including small group atrophy and type II fiber predominance. Thus it appears that the rigid spine syn-
drome resembles myosclerosis in being a heterogeneous condition caused by various separate diseases. References 1. Bernheim G, Mouriquand C, Laternier J, et al: La forme pseudomyopathipolymyosite fibreuse que chez I'enfant. Pediatrie 9: 669-682, 1954. 2. Bradley WG, Hudgson P, Gardner-Medwin D, et al: The syndrome of myosclerosis. J Neural Neurosurg Psychiatry 36: 651-660, 1973. 3. Burton JAG, Cowan J, Miller H: Generalized myositis fibrosa, with the report of a case. QJ Med 17 : 103-111.1923. 4. Cordier J, Lowenthal A, Radermecker M-A, et al: Sur une forme congenitale et hereditaire de sch~ rose musculaire generalisee. A eta Neural Psychiatr Belg 52: 422432, 1952. 5. Dubowitz V: Some unusual neuromuscular disorders. In: Walton IN, Canal N, Scarlato G (eds): Muscle Diseases. Excerpta Medica, Amsterdam, International Congress Series, 199: 568-573, 1970. 6. Dubowitz V: Rigid spine syndrome: A muscle syndrome in search of a name : Froc Royal Soc
a
76 Brain & Develof!ment, Vall, No 2, 1979
Med 66 : 219-220,1973. 7. Duboxitz V, Brooke M: Muscle Biopsy: A Modern Approach. WB Saunders, London.Phiiadelphia·Toronto,1973, pp.368-371. 8. Duchenne GBA: Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myosclerosique. Arch Gen Med 1: 5-25, 1868. 9. Dunn HG: The rigid spine syndrome (Dubowitz). Can J Neural Sci 3: 155,1976. 10. Enzinger FM, Du1cey F: Proliferative myositis. Report of thirty-three cases. Cancer 20: 22132223,1967. 11. Goebel HH, Lenard HG, Gorke W, et al: Fiber type disproportion in the rigid spine syndrome. Neuropiidiatrie 8: 467477,1977. 12. Kern WH: Proliferative myositis: A pseudosarcomatous reaction to injury. A report of seven cases. Arch Pathal69: 209-216, 1960. 13. Lowenthal A: Un groupe heredodegeneratif nouveau: Les myoscleroses heredofamiliales. Acta Neural Psychiatr Belg 54: 155-165,1954. 14. Seay AR, Ziter FA, Petajan JH: Rigid spine syndrome: A type 1 fiber myopathy. Arch Neural 34: 119-122,1977. 15. Walton IN, Adams RD: Polymyositis. Livingstone, Edinburgh, 1958.
The Rigid Spine Syndrome Henry G. Dunn, MB, FRCP, FRCP (C)
Fibrosis is generally accepted as part of the repair process in muscular dystrophy. In fact, in sur la paralysie musculaire pseudohypertrophique or paralysie myosclerosique." However, occasional reports in the literature have referred phique ou paralysis myosclerosique." However, occasion reports in the literature have referred to cases of "myosclerosis" or "myositis fibrosa," in whom proliferation of perimysial and endomysial collagen has been a particularly marked feature, sometimes suspected of being the primary pathogenic process. Clinically, such patients present with induration and contracture of muscles; myosclerosis has also been described in familial form [4,13]. When round cell infIltration is marked, a chronic phase of polymyositis may be suspected [1,3,15], and the distinction between muscular dystrophy and polymyositis may be difficult for the pathologist. With localized contractu res ischemic muscle damage has to be exchided and focal proliferative myositis [10,12] has to be considered. Bradley and his colleagues [2] described two siblings in whom myosclerosis appeared to result from spinal muscular atrophy and who seemed to benefit from treatment with penicillamine. The authors concluded that "myosclerosis" was a syndrome arising from several different disease entities. In 1970 and 1973, Dubowitz [5,6] described a syndrome characterized by limitation of spinal flexion, associated with a widespread but From the Division of Neurology, Department of Podiatries, The University of British Columbia, Vancouver. Submitted for pUblication: August 29, 1979.
Keywords: Fibrosis, myopathy, myosclerosis, spine, spinal muscle. Correspondence address: Dr. H.G. Dunn, Department of Pediatrics, The University of British Columbia, 715 West 12th Avenue, Vancouver, B.D., V5Z IM9, Canada.
relatively nonprogressive myopathy. His four patients were all males who had little clinical weakness but were liable to develop lordosis and scoliosis; extension of elbows was also often restricted by contracture of biceps muscles. One case was still ambulant at 23, another at 18 years. The serum creatine phosphokinase level was moderately elevated. Electromyography showed a "myopathic" pattern with short duration potentials of normal amplitude. Nerve conduction velocity was normal. Biopsy of affected muscles [7] demonstrated extensive proliferation of connective tissue, variation in fiber size and some degenerating fibers; there was no evidence of polymyositis. Radiographs of the spine showed no skeletal abnormality. Dubowitz suggested the term "rigid spine syndrome" to highlight the essential clinical problem. II} one autopsy no abnormality of the central or peripheral nervous system was found _ Since then a few further cases have been described. At the Canadian Congress of Neurological Sciences in 1976 the syndrome was reported in a boy whose maternal grandmother had had a similar myopathy, and also in a girl who had a neuromyopathy, ie a fibrosing type of myopathy combined with a polyneuropathy [9]. In 1977 two cases were published who had the syndrome associated with fiber type disproportion, chiefly type I fiber hypotrophy and predominance [11,14] . At the International Congress on Neuromuscular Diseases in Montreal in 1978, D.H. Van Dyke, R.C. Griggs and R.T. Moxley presented four unrelated females who had non progressive proximal weakness with rigid spine and scoliosis. All were reported to have been weak in infancy or to have had delayed acquisition of motor skills. Biopsies showed a spectrum of pathological changes, including small group atrophy and type II fiber predominance. Thus it appears that the rigid spine syn-
drome resembles myosclerosis in being a heterogeneous condition caused by various separate diseases. References 1. Bernheim G, Mouriquand C, Laternier J, et al: La forme pseudomyopathipolymyosite fibreuse que chez I'enfant. Pediatrie 9: 669-682, 1954. 2. Bradley WG, Hudgson P, Gardner-Medwin D, et al: The syndrome of myosclerosis. J Neural Neurosurg Psychiatry 36: 651-660, 1973. 3. Burton JAG, Cowan J, Miller H: Generalized myositis fibrosa, with the report of a case. QJ Med 17 : 103-111.1923. 4. Cordier J, Lowenthal A, Radermecker M-A, et al: Sur une forme congenitale et hereditaire de sch~ rose musculaire generalisee. A eta Neural Psychiatr Belg 52: 422432, 1952. 5. Dubowitz V: Some unusual neuromuscular disorders. In: Walton IN, Canal N, Scarlato G (eds): Muscle Diseases. Excerpta Medica, Amsterdam, International Congress Series, 199: 568-573, 1970. 6. Dubowitz V: Rigid spine syndrome: A muscle syndrome in search of a name : Froc Royal Soc
a
76 Brain & Develof!ment, Vall, No 2, 1979
Med 66 : 219-220,1973. 7. Duboxitz V, Brooke M: Muscle Biopsy: A Modern Approach. WB Saunders, London.Phiiadelphia·Toronto,1973, pp.368-371. 8. Duchenne GBA: Recherches sur la paralysie musculaire pseudohypertrophique ou paralysie myosclerosique. Arch Gen Med 1: 5-25, 1868. 9. Dunn HG: The rigid spine syndrome (Dubowitz). Can J Neural Sci 3: 155,1976. 10. Enzinger FM, Du1cey F: Proliferative myositis. Report of thirty-three cases. Cancer 20: 22132223,1967. 11. Goebel HH, Lenard HG, Gorke W, et al: Fiber type disproportion in the rigid spine syndrome. Neuropiidiatrie 8: 467477,1977. 12. Kern WH: Proliferative myositis: A pseudosarcomatous reaction to injury. A report of seven cases. Arch Pathal69: 209-216, 1960. 13. Lowenthal A: Un groupe heredodegeneratif nouveau: Les myoscleroses heredofamiliales. Acta Neural Psychiatr Belg 54: 155-165,1954. 14. Seay AR, Ziter FA, Petajan JH: Rigid spine syndrome: A type 1 fiber myopathy. Arch Neural 34: 119-122,1977. 15. Walton IN, Adams RD: Polymyositis. Livingstone, Edinburgh, 1958.