Abstract
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.
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Albrecht S, Bilbao JM (1993) Ubiquitin expression in inclusion body myositis. Arch Pathol Lab Med 117:789–793
Askanas V, Serdaroglu P, Engel WK, Alvarez RB (1991) Immunocytochemical localization of ubiquitin in muscle biopsy of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett 130:73–76.
Askanas V, Engel WK, Alvarez RB (1992) b-Amyloid protein immunore-activity in muscle of patients with inclusion body myositis. Lancet 339:560–561
Askanas V, Engel WK, Alvarez RB (1992) Light and electron microscopic localization of b-amyloid protein in muscle biopsies of patients with inclusion body myositis. Am J Pathol 141:31–36
Askanas V, Serdaroglu P, Engel WK, Alvarez RB (1992) Immunocytochemical localization of ubiquitin in inclusion body myositis allows its light-microscopic distinction from polymyositis. Neurology 42:460–461
Askanas V, Bilak M, Alvarez RB, Engel WK (1993) Abnormal accumulation of Alzheimer’s neuronal Alz-50 antigen (Alz-59) in vacuolated muscle fibres (VMFs) in inclusion body myositis (IBM). Neurology 43:A357
Askanas V, Engel WK, Alvarez RB (1993) Enhanced detection of congored-positive amyloid deposits in muscle fibres of inclusion body myositis and brain of Alzheimer’s disease using fluorescence technique. Neurology 43:1265–1267
Askanas V, Engel WK, Bilak M, Alvarez R, Selkoe DJ (1994) Twisted tubulofilaments of inclusion body myositis muscle resemble paired helical filaments of Alzheimer brain and contain hyperphosphorylated tau. Am J Pathol 144:177–187
Bilak M, Askanas V, Engel WK (1993) Strong immunoreactivity of alpha 1-antichymotrypsin co-localizes with b-amyloid protein and ubiquitin in vacuolated muscle fibres of inclusion body myositis. Acta Neuropathol 85:378–382
Carpenter S, Karpati G, Heller I, Eisen A (1978) Inclusion body myositis: a distinct variety of idiopathic inflammatory myopathy. Neurology 28:8–17
Cole A, Kuzniecky R, Karpati, G, et al (1988) Familial myopathy with changes resembling inclusion body myositis and periventricular leucoencephalopathy. A new syndrome. Brain 111:1025–1037
Dubowitz V (1985) Muscle biopsy. A practical approach. Baillière Tindall, London, pp 19–40
Dubowitz V, Brooke MH (1973) Muscle biopsy: a modern approach. Saunders, London
Fardeau M, Askanas V, Tomé F, et al (1990) Hereditary neuromuscular disorder with inclusion body myositis-like filamentous inclusions: clinical, pathological, and tissue culture studies. Neurology 40 [Suppl 1]:120
Figarella-Branger D, Pellissier JF, Bianco N, Devictor B, Toga M (1990) Inflammatory and non-inflammatory inclusion body myositis. Acta Neuropathol 79:528–536
Hentati F, Ben Hamida C, Tomé F, Oueslati S, Fardeau M, Ben Hamida M (1991) “Familial inclusion body myositis” sparing the quadriceps with asymptomatic leucoencephalopathy in a Tunisian kindred. Neurology 41 [Suppl 1]:422
Klingman J, Gibbs M (1991) Familial inclusion body myositis. Neurology 41 [Suppl 1]:275
Lotz BP, Engel AG, Nishino H, Stevens JC, Litchy WJ (1989) Inclusion body myositis. Observations in 40 patients. Brain 112:727–747
Massa R, Weller B, Karpati G, Shoubridge E, Carpenter S (1991) Familial inclusion body myositis among Kurdish-Iranian Jews. Arch Neurol 48:519–522
Mendell JR, Sahenk Z (1992) Inclusion body myositis. Neurology 42:2231–2232
Mendell JR, Sahenk Z, Gales T, Paul L (1991) Amyloid filaments in inclusion body myositis. Arch Neurol 48:1229–1234
Neville H, Baumbach L, Ringel SP, Russo LS, Sujansky E, Garcia CA (1992) Familial inclusion body myositis: evidence of autosomal dominant inheritance. Neurology 42:897–902
Sadeh M, Gadoth N, Hadar H, Ben-David E (1993) Vacuolar myopathy sparing the quadriceps. Brain 116:217–232
Sarkozi E, Askanas V, Johnson SA, Engel WK, Alvarez RB (1993) b-Amyloid precursor protein mRNA is increased in inclusion body myositis muscle. Neuroreport 4:815–818
Soueidan SA, Dalakas MC (1993) Treatment of inclusion body myositis with high-dose intravenous immunoglobulin. Neurology 43:876–879
Sunohara N, Nonaka I, Kamei N, Satoyoshi E (1989) Distal myopathy with rimmed vacuole formation. Brain 112:65–83
Villanova M, Kawai M, Lübke U, Oh SJ, Perry G, Six J, Ceuterick C, Martin JJ, Cras P (1993) Rimmed vacuoles of inclusion body myositis and oculopharyngeal muscular dystrophy contain amyloid precursor protein and lysosomal markers. Brain Res 603:343–347
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Naumann, M., Reichmann, H., Goebel, H.H. et al. Glucocorticoid-sensitive hereditary inclusion body myositis. J Neurol 243, 126–130 (1996). https://doi.org/10.1007/BF02444002
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DOI: https://doi.org/10.1007/BF02444002