“Ragged-red” fibres in myotonic dystrophy

Ono, Seiitsu; Kurisaki, Hiroshi; Inouye, Kiyoharu; Mannen, Toru

doi:10.1016/0022-510x(86)90110-3

Cited by 24 publications

(19 citation statements)

References 8 publications

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“…Besides the primary disease process, functional limitation in myotonic dystrophy is caused in part by a prominent state of deconditioning as is the case in patients with MM. Furthermore, patients with myotonic dystrophy commonly have ragged red fibers in muscle [11,13], low muscle mitochondrial enzyme activity [11] and occasional abnormalities on phosphorous magnetic resonance spectroscopy ( 31 P-MRS) of muscle [2] that mimic disturbed mitochondrial metabolism. Still, lactate responses during exercise did not differ significantly between healthy, sedentary subjects and patients with myotonic dystrophy.…”

Section: Discussionmentioning

confidence: 99%

Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy

Jeppesen

Olsen

Vissing

2003

Journal of Neurology

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Cycle exercise has repeatedly been used to diagnose patients suspected of having mitochondrial myopathy (MM), in whom exercise intolerance and lactic acidosis are common. No standardized test, however, has been established. We evaluated the diagnostic value of incremental and constant workload (20 min at 65 % VO(2max)) cycle tests for the diagnosis of MM. Plasma lactate and oxidative capacity (VO(2) and workload) were measured in 15 well-characterized MM patients during cycling. Findings were compared with those in 10 myotonic dystrophy patients and 18 sedentary, healthy subjects. All MM patients had ragged red or COX-negative fibers on muscle biopsy. VO(2max) and maximal workload were lower in MM than in control groups (P < 0.02). Resting plasma lactate was higher in MM than in control groups (P < 0.005; sensitivity = 93 %; specificity = 85 %), while exercise-induced increases in plasma lactate were only higher during the constant workload protocol in MM patients vs. control groups (P < 0.05; sensitivity = 27 %; specificity = 86 %). The findings indicate that the diagnostic value of a constant workload protocol is superior to an incremental cycle test, but that the test is less sensitive for MM than simple testing of resting lactate and muscle morphology. Cycle testing of MM patients remains an important research tool, but should not be a standard diagnostic procedure for MM.

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Section: Discussionmentioning

confidence: 99%

Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy

Jeppesen

Olsen

Vissing

2003

Journal of Neurology

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“…[23][24][25][26] For that reason, a very careful clinical and biological work-up must be done in all patients with this finding to rule out inflammatory, autoimmune, toxic, metabolic, neoplastic and endocrine myopathies. Probably, in the near future, research in biochemical and neuromusclar fields will allow other criteria for the diagnosis of the mitochondrial diseases in both young and adultonset types.…”

Section: Discussionmentioning

confidence: 99%

Adult-onset mitochondrial myopathy

Fernández‐Solà¹,

Casademont²,

Grau³

et al. 1992

Postgraduate Medical Journal

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Summary:Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare.We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found.We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life.

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“…Only 1 patient had a single RRF. RRF have been detected in limb mus cles of some DM patients in a small to moderate amount [4]. About 20% of muscle fibers were identified as RRF in the superior rectus extraocular muscle of a 53-year-old man with DM [5], Most of them showed reduced reactivi ty for cytochrome c oxidase.…”

Section: Discussionmentioning

confidence: 99%

“…Ragged red fibers (RRF) were ob served in biceps muscle biopsies from 13 of 25 patients with DM, the incidence varying from 0.5 to 20% [4], Elec tron microscopy confirmed the presence of mitochondrial alterations such as subsarcolemmal proliferation, dense granular matrix materials within enlarged mitochondria, and paracrystalline inclusions.…”

Section: Introductionmentioning

confidence: 99%

Muscle Mitochondria Investigation in Myotonic Dystrophy

Vita

Toscano

Prelle³

et al. 1993

Eur Neurol

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Mitochondrial abnormalities have been previously reported in some patients with myotonic dystrophy (DM). The aim of the present paper was to study muscle mitochondria in 32 DM patients by morphological, biochemical (when suggested by morphology) and genetic analysis. A single ragged red fiber, but no cytochrome c oxidase-negative fibers were found in the muscle specimen of 1 patient. However, mitochondrial enzyme activities resulted within the normal range. An electron microscopy study showed no significant mitochondrial changes. Southern blot analysis did not reveal any mitochondrial DNA hetero-plasmy in all 32 patients. An explanation for the discordant results between this study and some previous reports of mitochondrial alterations in DM might be that their occasional presence is not related to the disease but to ageing. Another possibility is that among patients with a myotonic dystrophy phenotype, a small subgroup of subjects with a mitochondrial disease may exist and be differentiated.

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“Ragged-red” fibres in myotonic dystrophy

Cited by 24 publications

References 8 publications

Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy

Cycle ergometry is not a sensitive diagnostic test for mitochondrial myopathy

Adult-onset mitochondrial myopathy

Muscle Mitochondria Investigation in Myotonic Dystrophy

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