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P4.30 Muscle MRI of spinal muscular atrophy
Abstracts / Neuromuscular Disorders 20 (2010) 596–680
of Laing distal myopathies, one case of Welander distal myopathy. Conclusion: (1) Starting muscle involvement and serum creatine kinase values contribute to the sub-type diagnosis of distal myopathy. (2) Dysferlin deficiency is the characteristic pathological change for Miyoshi distal muscular dystrophy. (3) Generous rimmed vacuoles in cytoplasm is the typical pathological changes for distal myopathy with rimmed vacuoles. Rimmed vacuoles of different degrees are observed in other typies of distal myopathies. (4) Skeletal muscle MRI is significance for assessment of muscle involvement and selecting location for muscle biopsy, and should be widely used in clinic. Muscle imaging techniques combine with pathological and molecular pathological character can guide further gene test.
667
We report MRI findings of spinal muscular atrophy (SMA) patients. Genetically confirmed ten patients with SMA had muscle MRI of their legs using T1 and STIR sequences through pelvis, calves, and thighs. Patients with SMA showed consistent pattern of diffuse muscle involvement corresponding to clinical severity. All patients with SMA I (the most severe type) and SMA II (intermediate type) had high signal intensity of entire muscles examined in STIR sequence, which was never observed in other neuromuscular disease. These findings suggest muscle MRI can be applied to distinguish SMA from other NMD with similar clinical feature. Moreover, MRI might be used as a tool for clinical trial for evaluating clinical intervention. doi:10.1016/j.nmd.2010.07.226
doi:10.1016/j.nmd.2010.07.224
P4.29 Magnetic resonance identifies muscle wasting associated with fatty infiltration and loss of strength over an 18-month period in type 1 myotonic dystrophy E. Larose 1, C. Côté 2, L. Hébert 3, J. Puymirat 3 1 Institut universitaire de cardiologie et de pneumologie de Québec, Québec, Canada, 2 CHUQ, Québec, Canada, 3 CHUL, Québec, Canada
Background: Myotonic Dystrophy type 1 (DM1), an autosomal dominant multisystemic disorder, is the most common adult form of muscular dystrophy. Features of adult DM1 include myotonia and progressive muscular weakness and wasting. Reliable and objective methods are needed to quantitatively measure disease severity and muscle damage in DM1. Methods: Seventeen French-Canadian men and women with DM1 were prospectively studied. Quantitative muscle testing (QMT) of right and left dorsiflexors (DF) of the ankles and MRI were performed at study entry and after 18 months. 1.5 T MRI was performed of the right and left Tibialis Anterior (TA) muscles by 3-point Dixon method (4 mm thickness, 8 mm gap) to determine in-vivo (1) TA mass, (2) TA lipid content, and (3) TA edema content using semi-automated image interpretation. Results: A total of 5916 slices of muscle morphology/tissue composition were obtained (17 right and left legs at baseline and at 18 months). TA mass significantly decreased from 142.5 ± 34.9 to 121.7 ± 30.3 g over 18 months (p = 0.02), while percent lipid (8.5 ± 14.4 vs. 10.3 ± 15.0%, p = 0.6) and edema (7.5 ± 12.4 vs. 6.6 ± 7.7%, p = 0.8) contents of TA did not change. Significant correlations were observed between TA mass and lipid content (Kendall’s Tau = 0.50, p < 0.0001), QMT of DF (Tau = 0.60, p < 0.0001), but not TA edema content. Multivariate ANOVA indicated that changes in TA mass over 18 months were significantly associated with changes in lipid content, DF strength, (R2 = 0.33, all p < 0.05). Conclusions: Over an 18-month period, MRI identified TA muscle wasting in patients with DM1 which was significantly associated with loss of muscle strength and fatty change. MRI provides an important opportunity to accurately follow the progression of DM1 in patients and also in prediction of therapeutic response.
P4.31 Measurement of the muscle volume in patients with muscular dystrophy using muscle CT T.N. Nakayama Yokohama Rosai Hospital, Department of Neurology, Yokohama, Japan Objective: The muscle volume in patients with muscle diseases is an index of disease progression and efficacy of the therapy, however, the measurement of muscle volume was not conducted to determine. This study showed the new method for the muscle volumetry for years using CT in patients’ thigh muscle which mainly contributed to the daily function. Methods: (1) Helical CT scanners were used to investigate the muscle volume in 16 patients aged between 26 and 53 years old. DCT imaging was performed between the great trochanter and the patella, with an 1-cm slice thickness. CT images were analyzed applying estimated linear-function, and muscle density map was obtained. Obvious vessels and skin tissues were erased manually from the density map, and accumulation of outcomes resulted in muscle volume of thigh. (2) DXA scanners were also used in these patients, and the muscle mass of thigh was calculated. (3) To compare the results during several years, the muscle volume of central part of the section between great trochantar and patella was measured during three years. Twentytwo patients aged between 25 and 66 years old. Results: (1) The muscle volume of thigh on one side was calculated as between 450 and 4300 m3 by CT. The muscle mass of thigh calculated from DXA was also estimated as between 1200 and 4000 g. The two results closely corresponded to one another, with a interclass correlation coefficient of 0.957. (2) The volume of thigh muscle in the patients who complained about gait disturbance were decreased in these years. Conclusion: The measurement of muscle volume based on CT, which was validated by the muscle mass calculated from DXA, was developed. The measurement was almost automatically executed, in contrast to DXA, and the muscle was not anatomically distinguished from the other tissues but calculated from CT value. doi:10.1016/j.nmd.2010.07.227
doi:10.1016/j.nmd.2010.07.225
P4.30 Muscle MRI of spinal muscular atrophy H. Komaki, H. Sakuma, Y. Saito, E. Nakagawa, K. Sugai, M. Sasaki National Center of Neurology and Psychiatry, Department of Child Neurology, Tokyo, Japan
P4.32 New light on calculating the free ADP concentration from the creatine kinase equilibrium B.H. Janssen 1, C.I.H. Nabuurs 1, C.W. Hilbers 2, A. Heerschap 1 1
Radboud University Nijmegen Medical Centre, Radiology, Nijmegen, Netherlands, 2 Radboud University Nijmegen, Laboratory of Physical Chemistry, Nijmegen, Netherlands
of Laing distal myopathies, one case of Welander distal myopathy. Conclusion: (1) Starting muscle involvement and serum creatine kinase values contribute to the sub-type diagnosis of distal myopathy. (2) Dysferlin deficiency is the characteristic pathological change for Miyoshi distal muscular dystrophy. (3) Generous rimmed vacuoles in cytoplasm is the typical pathological changes for distal myopathy with rimmed vacuoles. Rimmed vacuoles of different degrees are observed in other typies of distal myopathies. (4) Skeletal muscle MRI is significance for assessment of muscle involvement and selecting location for muscle biopsy, and should be widely used in clinic. Muscle imaging techniques combine with pathological and molecular pathological character can guide further gene test.
667
We report MRI findings of spinal muscular atrophy (SMA) patients. Genetically confirmed ten patients with SMA had muscle MRI of their legs using T1 and STIR sequences through pelvis, calves, and thighs. Patients with SMA showed consistent pattern of diffuse muscle involvement corresponding to clinical severity. All patients with SMA I (the most severe type) and SMA II (intermediate type) had high signal intensity of entire muscles examined in STIR sequence, which was never observed in other neuromuscular disease. These findings suggest muscle MRI can be applied to distinguish SMA from other NMD with similar clinical feature. Moreover, MRI might be used as a tool for clinical trial for evaluating clinical intervention. doi:10.1016/j.nmd.2010.07.226
doi:10.1016/j.nmd.2010.07.224
P4.29 Magnetic resonance identifies muscle wasting associated with fatty infiltration and loss of strength over an 18-month period in type 1 myotonic dystrophy E. Larose 1, C. Côté 2, L. Hébert 3, J. Puymirat 3 1 Institut universitaire de cardiologie et de pneumologie de Québec, Québec, Canada, 2 CHUQ, Québec, Canada, 3 CHUL, Québec, Canada
Background: Myotonic Dystrophy type 1 (DM1), an autosomal dominant multisystemic disorder, is the most common adult form of muscular dystrophy. Features of adult DM1 include myotonia and progressive muscular weakness and wasting. Reliable and objective methods are needed to quantitatively measure disease severity and muscle damage in DM1. Methods: Seventeen French-Canadian men and women with DM1 were prospectively studied. Quantitative muscle testing (QMT) of right and left dorsiflexors (DF) of the ankles and MRI were performed at study entry and after 18 months. 1.5 T MRI was performed of the right and left Tibialis Anterior (TA) muscles by 3-point Dixon method (4 mm thickness, 8 mm gap) to determine in-vivo (1) TA mass, (2) TA lipid content, and (3) TA edema content using semi-automated image interpretation. Results: A total of 5916 slices of muscle morphology/tissue composition were obtained (17 right and left legs at baseline and at 18 months). TA mass significantly decreased from 142.5 ± 34.9 to 121.7 ± 30.3 g over 18 months (p = 0.02), while percent lipid (8.5 ± 14.4 vs. 10.3 ± 15.0%, p = 0.6) and edema (7.5 ± 12.4 vs. 6.6 ± 7.7%, p = 0.8) contents of TA did not change. Significant correlations were observed between TA mass and lipid content (Kendall’s Tau = 0.50, p < 0.0001), QMT of DF (Tau = 0.60, p < 0.0001), but not TA edema content. Multivariate ANOVA indicated that changes in TA mass over 18 months were significantly associated with changes in lipid content, DF strength, (R2 = 0.33, all p < 0.05). Conclusions: Over an 18-month period, MRI identified TA muscle wasting in patients with DM1 which was significantly associated with loss of muscle strength and fatty change. MRI provides an important opportunity to accurately follow the progression of DM1 in patients and also in prediction of therapeutic response.
P4.31 Measurement of the muscle volume in patients with muscular dystrophy using muscle CT T.N. Nakayama Yokohama Rosai Hospital, Department of Neurology, Yokohama, Japan Objective: The muscle volume in patients with muscle diseases is an index of disease progression and efficacy of the therapy, however, the measurement of muscle volume was not conducted to determine. This study showed the new method for the muscle volumetry for years using CT in patients’ thigh muscle which mainly contributed to the daily function. Methods: (1) Helical CT scanners were used to investigate the muscle volume in 16 patients aged between 26 and 53 years old. DCT imaging was performed between the great trochanter and the patella, with an 1-cm slice thickness. CT images were analyzed applying estimated linear-function, and muscle density map was obtained. Obvious vessels and skin tissues were erased manually from the density map, and accumulation of outcomes resulted in muscle volume of thigh. (2) DXA scanners were also used in these patients, and the muscle mass of thigh was calculated. (3) To compare the results during several years, the muscle volume of central part of the section between great trochantar and patella was measured during three years. Twentytwo patients aged between 25 and 66 years old. Results: (1) The muscle volume of thigh on one side was calculated as between 450 and 4300 m3 by CT. The muscle mass of thigh calculated from DXA was also estimated as between 1200 and 4000 g. The two results closely corresponded to one another, with a interclass correlation coefficient of 0.957. (2) The volume of thigh muscle in the patients who complained about gait disturbance were decreased in these years. Conclusion: The measurement of muscle volume based on CT, which was validated by the muscle mass calculated from DXA, was developed. The measurement was almost automatically executed, in contrast to DXA, and the muscle was not anatomically distinguished from the other tissues but calculated from CT value. doi:10.1016/j.nmd.2010.07.227
doi:10.1016/j.nmd.2010.07.225
P4.30 Muscle MRI of spinal muscular atrophy H. Komaki, H. Sakuma, Y. Saito, E. Nakagawa, K. Sugai, M. Sasaki National Center of Neurology and Psychiatry, Department of Child Neurology, Tokyo, Japan
P4.32 New light on calculating the free ADP concentration from the creatine kinase equilibrium B.H. Janssen 1, C.I.H. Nabuurs 1, C.W. Hilbers 2, A. Heerschap 1 1
Radboud University Nijmegen Medical Centre, Radiology, Nijmegen, Netherlands, 2 Radboud University Nijmegen, Laboratory of Physical Chemistry, Nijmegen, Netherlands