Clinical, electromyographic and pathological features were studied in 18 patients with lipid storage myopathy (group I ) and 18 patients with polymyositis and dermatomyositis (group II). The results showed a remarkabl...Clinical, electromyographic and pathological features were studied in 18 patients with lipid storage myopathy (group I ) and 18 patients with polymyositis and dermatomyositis (group II). The results showed a remarkable lower spontaneous activity(SA) incidence (14% ) in group I than that (55% ) in group II; 46% and 34% short-duration motor unit potentials (MUAPs) with polyphasic potentials and 74% and 71% short-duration MUAPs without polyphasic potentials respectively; the percentages of increased polyphasic MUAPs were same in the two groups. The reduced or pathologic interference patterns accounted for 61 % in the group I and 50% in group II. Increased CPK, LDH and HBD were also found in both of them. It is suggested that the lipid storage myopathy may be diagnosed when patients have muscle weakness and myalgia with short-duration and low-amplitude and polyphasic MUAPs without or with occasional spontaneous activities, and increased CPK, LDH and HBD.展开更多
Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LS...Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.展开更多
The patient was a 17-year-old female who complained of episodic vomiting,exercise intolerance,and muscle weakness.Her symptoms started at 13 years and the initial symptom was vomiting after a meal.At the beginning,mus...The patient was a 17-year-old female who complained of episodic vomiting,exercise intolerance,and muscle weakness.Her symptoms started at 13 years and the initial symptom was vomiting after a meal.At the beginning,muscle fatigue and exercise intolerance after intense exercise only affected her lower limbs.The symptoms progressed slowly in the past 4 years.Her upper limbs,as well as neck muscles were involved now.The patient had no complaint about muscle stiffness,myalgia,or numbness.Physical examination indicated that she had no obviously muscle atrophy.The muscle strength was 4 to 5 (Medical Research Council Scale) in proximal lower limbs,4/5 in proximal upper limbs,and almost normal in distal limbs.Deep tendon reflexes were diminished and sensory examination was intact.No abnormality was evident in the serum blood,except for mild elevated creatinine kinase level (312 IU/L,normal 26-192 IU/L) and slightly increased lactate dehydrogenase level (112IU/L,normal 8-46IU/L).Echocardiography examinations showed the four cardiac chambers were normal in size and function.Muscle strength improved after treatment with riboflavin.展开更多
文摘Clinical, electromyographic and pathological features were studied in 18 patients with lipid storage myopathy (group I ) and 18 patients with polymyositis and dermatomyositis (group II). The results showed a remarkable lower spontaneous activity(SA) incidence (14% ) in group I than that (55% ) in group II; 46% and 34% short-duration motor unit potentials (MUAPs) with polyphasic potentials and 74% and 71% short-duration MUAPs without polyphasic potentials respectively; the percentages of increased polyphasic MUAPs were same in the two groups. The reduced or pathologic interference patterns accounted for 61 % in the group I and 50% in group II. Increased CPK, LDH and HBD were also found in both of them. It is suggested that the lipid storage myopathy may be diagnosed when patients have muscle weakness and myalgia with short-duration and low-amplitude and polyphasic MUAPs without or with occasional spontaneous activities, and increased CPK, LDH and HBD.
基金grants from the National Natural Science Foundation of China，the National Key Clinical Specialty Discipline Construction Program,and Fujian Key Clinical Specialty Discipline Construction Program
文摘Background： Lipid storage myopathy （LSM） is a genetically heterogeneous group with variable clinical phenotypes. Late-onset multiple acyl-coenzyme A dehydrogenation deficiency （MADD） is a rather common form of LSM in China. Diagnosis and clinical management of it remain challenging, especially without robust muscle biopsy result and genetic detection. As the noninvasion and convenience, muscle magnetic resonance imaging （MRI） is a helpful assistant, diagnostic tool for neuromuscular disorders. However, the disease-specific MRI patterns of muscle involved and its diagnostic value in late-onset MADD have not been systematic analyzed. Methods： We assessed the MRI pattern and fat infiltration degree of the lower limb muscles in 28 late-onset MADD patients, combined with detailed clinical features and gene spectrum. Fat infiltration degree of the thigh muscle was scored while that ofgluteus was described as obvious or not. Associated muscular atrophy was defined as obvious muscle bulk reduction. Results： The mean scores were significantly different among the anterior, medial, and posterior thigh muscle groups. The mean of fat infiltration scores on posterior thigh muscle group was significantly higher than either anterior or medial thigh muscle group （P 〈 0.00 l）. Moreover, the mean score on medial thigh muscle group was significantly higher than that of anterior thigh muscle group （P 〈 0.01）. About half of the patients displayed fat infiltration and atrophy in gluteus muscles. Of 28 patients, 12 exhibited atrophy in medial and/ or posterior thigh muscle groups, especially in posterior thigh muscle group. Muscle edema pattern was not found in all the patients. Conclusions： Late-onset MADD patients show a typical muscular imaging pattern of fat infiltration and atrophy on anterior, posterior, and medial thigh muscle groups, with major involvement of posterior thigh muscle group and gluteus muscles and a sparing involvement of anterior thigh compartment. Our findings also suggest that muscle MRI of lower limbs is a helpful tool in guiding clinical evaluation on late-onset MADD.
文摘The patient was a 17-year-old female who complained of episodic vomiting,exercise intolerance,and muscle weakness.Her symptoms started at 13 years and the initial symptom was vomiting after a meal.At the beginning,muscle fatigue and exercise intolerance after intense exercise only affected her lower limbs.The symptoms progressed slowly in the past 4 years.Her upper limbs,as well as neck muscles were involved now.The patient had no complaint about muscle stiffness,myalgia,or numbness.Physical examination indicated that she had no obviously muscle atrophy.The muscle strength was 4 to 5 (Medical Research Council Scale) in proximal lower limbs,4/5 in proximal upper limbs,and almost normal in distal limbs.Deep tendon reflexes were diminished and sensory examination was intact.No abnormality was evident in the serum blood,except for mild elevated creatinine kinase level (312 IU/L,normal 26-192 IU/L) and slightly increased lactate dehydrogenase level (112IU/L,normal 8-46IU/L).Echocardiography examinations showed the four cardiac chambers were normal in size and function.Muscle strength improved after treatment with riboflavin.
