Plasticity of cerebellar Purkinje cells(PC)is influenced by progeste rone via the classical progeste rone receptors PR-A and PR-B by stimulating dendritogenesis,spinogenesis,and synaptogenesis in these cells.Dissociat...Plasticity of cerebellar Purkinje cells(PC)is influenced by progeste rone via the classical progeste rone receptors PR-A and PR-B by stimulating dendritogenesis,spinogenesis,and synaptogenesis in these cells.Dissociated PC cultures were used to analyze progeste rone effects at a molecular level on the voltage-gated T-type-Ca^(2+)-channels Ca_(v)3.1,Ca_(v)3.2,and Ca_(v)3.3 as they helped determine neuronal plasticity by regulating Ca^(2+)-influx in neuronal cells.The results showed direct effects of progesterone on the mRNA expression of T-type-Ca^(2+)-channels,as well as on the protein kinases A and C being involved in downstream signaling pathways that play an important role in neuronal plasticity.For the mRNA expression studies of T-type-Ca^(2+)-channels and protein kinases of the signaling cascade,laser microdissection and purified PC cultures of diffe rent maturation stages were used.Immunohistochemical staining was also performed to characte rize the localization of T-type-Ca^(2+)-channels in PC.Expe rimental progesterone treatment was performed on the purified PC culture for 24 and 48 hours.Our results show that progesterone increases the expression of Ca_(v)3.1 and Ca_(v)3.3 and associated protein kinases A and Cin PC at the mRNA level within 48 hours after treatment at latest.These effects extend the current knowledge of the function of progesterone in the central nervous system and provide an explanatory approach for its influence on neuronal plasticity.展开更多
Background:As sedentary behavior is a global health issue,there is a need for methods of self-reported sitting assessment.The accuracy and reliability of these methods should also be tested in various populations and ...Background:As sedentary behavior is a global health issue,there is a need for methods of self-reported sitting assessment.The accuracy and reliability of these methods should also be tested in various populations and different cultural contexts.This study examined the validity of longterm and short-term recall of occupational sitting time in Finnish and Chinese subgroups.Methods:Two cohort groups of office-based workers(58.6%female,age range 2267 years)participated:a Finnish group(FIN,n=34)and a Chinese group(CHI,n=36).Long-term(past 3-month sitting)and short-term(daily sitting assessed on 5 consecutive days)single-item measures were used to assess self-reported occupational sitting time.Values from each participant were compared to objectively measured occupational sitting time assessed via thigh-mounted accelerometers,with Spearman’s rho(r)used to assess validity and the Bland-Altman method used to evaluate agreement.Coefficients of variation depicted day-to-day variability of time spent on sitting at work.Results:In the total study sample,the results showed that both long-term and short-term recall correlated with accelerometer-derived sitting time(r=0.532,95%confidence intervals(CI):0.3360.684,p<0.001;r=0.533,95%CI:0.4490.607,p<0.001,respectively).Compared to objectively measured sitting time,self-reported occupational sitting time was 2.4%(95%CI:0.5%to 5.3%,p=0.091)and 2.2%(95%CI:0.7%3.6%,p=0.005)greater for long-term and short-term recall,respectively.The agreement level was within the range21.2%to 25.9%for long-term recall,and24.2%to 28.5%for short-term recall.During a 5-day work week,day-to-day variation of sitting time was 9.4%§11.4%according to short-term recall and 10.4%§8.4%according to accelerometry-derived occupational sitting time.Conclusion:Overall,both long-term and short-term self-reported instruments provide acceptable measures of occupational sitting time in an office-based workplace,but their utility at the individual level is limited due to large variability.展开更多
Modeling the force-velocity dependence of a muscle-tendon unit has been one of the most interesting objectives in the field of muscle mechanics. The so-called Hill’s equation [1,2] is widely used to describe the forc...Modeling the force-velocity dependence of a muscle-tendon unit has been one of the most interesting objectives in the field of muscle mechanics. The so-called Hill’s equation [1,2] is widely used to describe the force-velocity relationship of muscle fibers. Hill’s equation was based on the laboratory measurements of muscle fibers and its application to the practical measurements in muscle mechanics has been problematic. Therefore, the purpose of this study was to develop a new explicit calculation method to determine the force-velocity relationship, and test its function in experimental measurements. The model was based on the motion analysis of arm movements. Experiments on forearm rotations and whole arm rotations were performed downwards and upwards at maximum velocity. According to the present theory the movement proceeds as follows: start of motion, movement proceeds at constant maximum rotational moment (Hypothesis 1), movement proceeds at constant maximum power (Hypothesis 2), and stopping of motion. Theoretically derived equation, in which the motion proceeds at constant maximum power, fitted well the experimentally measured results. The constant maximum rotational moment hypothesis did not seem to fit the measured results and therefore a new equation which would better fit the measured results is needed for this hypothesis.展开更多
The purpose of this study was to further develop the constant power model of a previous study and to provide the final solution of Hill’s force-velocity equation. Forearm and whole arm rotations of three different su...The purpose of this study was to further develop the constant power model of a previous study and to provide the final solution of Hill’s force-velocity equation. Forearm and whole arm rotations of three different subjects were performed downwards (elbow and shoulder extension) and upwards (elbow and shoulder flexion) with maximum velocity. These arm rotations were recorded with a special camera system and the theoretically derived model of constant maximum power was fitted to the experimentally measured data. The moment of inertia of the arm sectors was calculated using immersion technique for determining accurate values of friction coefficients of elbow and whole arm rotations. The experiments of the present study verified the conclusions of a previous study in which theoretically derived equation with constant maximum power was in agreement with experimentally measured results. The results of the present study were compared with the mechanics of Hill’s model and a further development of Hill’s force-velocity relationship was derived: Hill’s model was transformed into a constant maximum power model consisting of three different components of power. It was concluded that there are three different states of motion: 1) the state of low speed, maximal acceleration without external load which applies to the hypothesis of constant moment;2) the state of high speed, maximal power without external load which applies to the hypothesis of constant power and 3) the state of maximal power with external load which applies to Hill’s equation. This is a new approach to Hill’s equation.展开更多
The authors report a 44- year- old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin- 3 gene. Immunohistochemistry of the muscle biopsy revealed a marked reduction of caveolin- 3 and ...The authors report a 44- year- old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin- 3 gene. Immunohistochemistry of the muscle biopsy revealed a marked reduction of caveolin- 3 and a mosaic pattern of dysferlin immunostaining. Ultrastructural studies showed a loss of caveolae and alterations of the triad. Autoantibodies were directed against the sarcolemma, triad, and several unknown muscle proteins.展开更多
Objective: To investigate the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, perso...Objective: To investigate the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, personality, and CTG repeat expansion data in the DM-1 group. Methods: In total, 50 patients with DM-1 (28 women and 22 men) participated, with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions, and CTG repeat size was quantified in blood lymphocytes. Results: Patients with DM-1 showed impaired recognition of facial emotions compared with controls. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability, and speed) and personality dimensions (reward dependence and cooperativeness) correlated with scores on the forced choice emotion recognition task. Conclusion: These findings revealed a CTG repeat dependent facial emotion recognition deficit in the DM-1 group, which was associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.展开更多
Introduction: Upper extremity impairment is one of the common complications following a stroke. There are numerous rehabilitation strategies to address this problem. However, patients with moderate to severe upper lim...Introduction: Upper extremity impairment is one of the common complications following a stroke. There are numerous rehabilitation strategies to address this problem. However, patients with moderate to severe upper limb disabilities respond differently to the same rehabilitation protocol. Apart from each patient’s unique characteristics, there are specific brain reorganizing patterns that affect the post-rehabilitation response rate. Functional magnetic resonance imaging (fMRI) determines brain activation area and connectivity patterns and has been utilized in the neurorehabilitation field. Material and Methods: Six stroke patients who suffered from moderate to severe upper extremity dysfunction were enrolled in this pilot study. Upper extremity function tests including the Fugl-Meyer assessment test for upper extremity (FMA-UE), and Wolf Motor Function Test (WMFT) were utilized before and after completing an intensive rehabilitation. The intensive rehabilitation program was conducted one hour a day for five days per week for four weeks. Moreover, fMRI was applied before initiating rehabilitation. The regions of interest were those associated with movement, including Brodmann areas (BA) BA1-BA6. Results: Six stroke patients in the sub-acute to chronic phase and ages ranging between 33 - 75 years were enrolled. All patients showed an improvement in upper limb function after four weeks of rehabilitation. Patient number one (Pt1) had the most improvement in FMA-UE, while patient number four (Pt4) recovered the most measured by WMFT. Pt1 demonstrated increased activity in all contralesional regions, whereas Pt4 had only increased activity in ipsilesional areas. Furthermore, patients with greater activation in the ipsilesional BA6 (Pt1, Pt4, Pt5, and Pt6) had better responses to the rehabilitation therapy. Conclusion: Patients with greater activation in the baseline fMRI, particularly ipsilesional BA6, had a better response to the intensive rehabilitation therapy. However, the patients with the most severe hand dysfunction showed lesser improvement despite the same brain activity as others in the initial fMRI.展开更多
Quantitative susceptibility mapping(QSM)is an advanced post‐processing technique in magnetic resonance imaging that offers precise measurements of tissue magnetic susceptibility with impressive spatial resolution and...Quantitative susceptibility mapping(QSM)is an advanced post‐processing technique in magnetic resonance imaging that offers precise measurements of tissue magnetic susceptibility with impressive spatial resolution and sensitivity.This review examines the potential of QSM as a biomarker for early detection and monitoring of amyotrophic lateral sclerosis(ALS).Since 2015,studies have consistently reported increased QSM values in the motor regions of individuals with ALS,indicating significant iron deposition.Iron accumulation is associated with dysfunction of the upper motor neurons and faster disease progression.Notably,increased QSM values were also observed in the critical subcortical areas responsible for motor function and cognitive control.However,standardizing optimized protocols,including background field removal algorithms,phase unwrapping approaches,and methods for final susceptibility map reconstruction,has the potential to enhance the consistency and reliability of QSM as an ALS biomarker.Overall,the current body of evidence strongly supports QSM in detecting iron dysregulation associated with neurodegeneration in both motor and extra‐motor regions in ALS.Furthermore,QSM's remarkable sensitivity to early pathological iron changes and its high specificity in distinguishing ALS positions make it a promising diagnostic and progression‐tracking biomarker.展开更多
Objectives Although skeletal muscle is a target of hormonal regulation,the muscle transcriptome,including messenger-RNA(mRNA),long non-coding RNAs(lncRNAs),and microRNAs(miRNAs)has not previously been studied across t...Objectives Although skeletal muscle is a target of hormonal regulation,the muscle transcriptome,including messenger-RNA(mRNA),long non-coding RNAs(lncRNAs),and microRNAs(miRNAs)has not previously been studied across the menopausal transition.Thus,we took a multi-RNA-omics approach to get insight into transcriptome-wide events of menopause.Methods We included baseline and follow-up muscle samples from seven early(EarlyMT)and 17 late perimenopausal(LateMT)women transitioning to early postmenopause during the study.Total RNA was sequenced and differential expression(DE)of the transcriptome was investigated.Gene functions were investigated with pathway analyses and protein level expression with Western Blot.Results We found 30 DE mRNA genes in EarlyMT and 19 in LateMT participating in pathways controlling cell death,growth,and interactions with the external environment.Lack of protein level changes may indicate a specific role of the regulatory RNAs during menopause.10 DE lncRNA transcripts but no DE lncRNA genes were identified.No DE miRNAs were found.We identified putative regulatory networks likely to be affected by estradiol availability.Changes in gene expression were correlated with changes in body composition variables,indicating that muscularity and adiposity regulators are affected by menopausal transition.We also found correlations between gene expression and physical activity levels.Conclusions The observed DE genes and their regulatory networks offer novel mechanistic insights into factors affecting body composition during and after menopause.Our results imply that physiological deteriorations orchestrated by the muscle transcriptome likely depend on the magnitude of hormonal change and are influenced by physical activity.展开更多
Myotonic dystrophy type 1 （DM1） is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with th...Myotonic dystrophy type 1 （DM1） is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with the cytosine-thynline-guanine （CTG） repeat expansion in 3＇untranslated region in dystrophia myotonica-protein kinase （DMPK） gene on chromosome 19q 13.3. In DM 1, CTG pathological repeat numbers are more than 50. The size of CTG repeat expansion is associated with the time of clinical phenotypes onset and severity The coexistence of DMI and syrlngomyelia is rare. Here, we report DM1 coexisting with syringonlyelia in a Chinese male patient.展开更多
文摘Plasticity of cerebellar Purkinje cells(PC)is influenced by progeste rone via the classical progeste rone receptors PR-A and PR-B by stimulating dendritogenesis,spinogenesis,and synaptogenesis in these cells.Dissociated PC cultures were used to analyze progeste rone effects at a molecular level on the voltage-gated T-type-Ca^(2+)-channels Ca_(v)3.1,Ca_(v)3.2,and Ca_(v)3.3 as they helped determine neuronal plasticity by regulating Ca^(2+)-influx in neuronal cells.The results showed direct effects of progesterone on the mRNA expression of T-type-Ca^(2+)-channels,as well as on the protein kinases A and C being involved in downstream signaling pathways that play an important role in neuronal plasticity.For the mRNA expression studies of T-type-Ca^(2+)-channels and protein kinases of the signaling cascade,laser microdissection and purified PC cultures of diffe rent maturation stages were used.Immunohistochemical staining was also performed to characte rize the localization of T-type-Ca^(2+)-channels in PC.Expe rimental progesterone treatment was performed on the purified PC culture for 24 and 48 hours.Our results show that progesterone increases the expression of Ca_(v)3.1 and Ca_(v)3.3 and associated protein kinases A and Cin PC at the mRNA level within 48 hours after treatment at latest.These effects extend the current knowledge of the function of progesterone in the central nervous system and provide an explanatory approach for its influence on neuronal plasticity.
基金supported by the China Scholarship Council(No.201206320092),China.
文摘Background:As sedentary behavior is a global health issue,there is a need for methods of self-reported sitting assessment.The accuracy and reliability of these methods should also be tested in various populations and different cultural contexts.This study examined the validity of longterm and short-term recall of occupational sitting time in Finnish and Chinese subgroups.Methods:Two cohort groups of office-based workers(58.6%female,age range 2267 years)participated:a Finnish group(FIN,n=34)and a Chinese group(CHI,n=36).Long-term(past 3-month sitting)and short-term(daily sitting assessed on 5 consecutive days)single-item measures were used to assess self-reported occupational sitting time.Values from each participant were compared to objectively measured occupational sitting time assessed via thigh-mounted accelerometers,with Spearman’s rho(r)used to assess validity and the Bland-Altman method used to evaluate agreement.Coefficients of variation depicted day-to-day variability of time spent on sitting at work.Results:In the total study sample,the results showed that both long-term and short-term recall correlated with accelerometer-derived sitting time(r=0.532,95%confidence intervals(CI):0.3360.684,p<0.001;r=0.533,95%CI:0.4490.607,p<0.001,respectively).Compared to objectively measured sitting time,self-reported occupational sitting time was 2.4%(95%CI:0.5%to 5.3%,p=0.091)and 2.2%(95%CI:0.7%3.6%,p=0.005)greater for long-term and short-term recall,respectively.The agreement level was within the range21.2%to 25.9%for long-term recall,and24.2%to 28.5%for short-term recall.During a 5-day work week,day-to-day variation of sitting time was 9.4%§11.4%according to short-term recall and 10.4%§8.4%according to accelerometry-derived occupational sitting time.Conclusion:Overall,both long-term and short-term self-reported instruments provide acceptable measures of occupational sitting time in an office-based workplace,but their utility at the individual level is limited due to large variability.
文摘Modeling the force-velocity dependence of a muscle-tendon unit has been one of the most interesting objectives in the field of muscle mechanics. The so-called Hill’s equation [1,2] is widely used to describe the force-velocity relationship of muscle fibers. Hill’s equation was based on the laboratory measurements of muscle fibers and its application to the practical measurements in muscle mechanics has been problematic. Therefore, the purpose of this study was to develop a new explicit calculation method to determine the force-velocity relationship, and test its function in experimental measurements. The model was based on the motion analysis of arm movements. Experiments on forearm rotations and whole arm rotations were performed downwards and upwards at maximum velocity. According to the present theory the movement proceeds as follows: start of motion, movement proceeds at constant maximum rotational moment (Hypothesis 1), movement proceeds at constant maximum power (Hypothesis 2), and stopping of motion. Theoretically derived equation, in which the motion proceeds at constant maximum power, fitted well the experimentally measured results. The constant maximum rotational moment hypothesis did not seem to fit the measured results and therefore a new equation which would better fit the measured results is needed for this hypothesis.
文摘The purpose of this study was to further develop the constant power model of a previous study and to provide the final solution of Hill’s force-velocity equation. Forearm and whole arm rotations of three different subjects were performed downwards (elbow and shoulder extension) and upwards (elbow and shoulder flexion) with maximum velocity. These arm rotations were recorded with a special camera system and the theoretically derived model of constant maximum power was fitted to the experimentally measured data. The moment of inertia of the arm sectors was calculated using immersion technique for determining accurate values of friction coefficients of elbow and whole arm rotations. The experiments of the present study verified the conclusions of a previous study in which theoretically derived equation with constant maximum power was in agreement with experimentally measured results. The results of the present study were compared with the mechanics of Hill’s model and a further development of Hill’s force-velocity relationship was derived: Hill’s model was transformed into a constant maximum power model consisting of three different components of power. It was concluded that there are three different states of motion: 1) the state of low speed, maximal acceleration without external load which applies to the hypothesis of constant moment;2) the state of high speed, maximal power without external load which applies to the hypothesis of constant power and 3) the state of maximal power with external load which applies to Hill’s equation. This is a new approach to Hill’s equation.
文摘The authors report a 44- year- old man with rippling muscle disease (RMD) who does not have a mutation in the caveolin- 3 gene. Immunohistochemistry of the muscle biopsy revealed a marked reduction of caveolin- 3 and a mosaic pattern of dysferlin immunostaining. Ultrastructural studies showed a loss of caveolae and alterations of the triad. Autoantibodies were directed against the sarcolemma, triad, and several unknown muscle proteins.
文摘Objective: To investigate the ability of patients with myotonic dystrophy type 1 to recognise basic facial emotions. We also explored the relationship between facial emotion recognition, neuropsychological data, personality, and CTG repeat expansion data in the DM-1 group. Methods: In total, 50 patients with DM-1 (28 women and 22 men) participated, with 41 healthy controls. Recognition of facial emotional expressions was assessed using photographs of basic emotions. A set of tests measured cognition and personality dimensions, and CTG repeat size was quantified in blood lymphocytes. Results: Patients with DM-1 showed impaired recognition of facial emotions compared with controls. A significant negative correlation was found between total score of emotion recognition in a forced choice task and CTG repeat size. Furthermore, specific cognitive functions (vocabulary, visuospatial construction ability, and speed) and personality dimensions (reward dependence and cooperativeness) correlated with scores on the forced choice emotion recognition task. Conclusion: These findings revealed a CTG repeat dependent facial emotion recognition deficit in the DM-1 group, which was associated with specific neuropsychological functions. Furthermore, a correlation was found between facial emotional recognition ability and personality dimensions associated with sociability. This adds a new clinically relevant dimension in the cognitive deficits associated with DM-1.
文摘Introduction: Upper extremity impairment is one of the common complications following a stroke. There are numerous rehabilitation strategies to address this problem. However, patients with moderate to severe upper limb disabilities respond differently to the same rehabilitation protocol. Apart from each patient’s unique characteristics, there are specific brain reorganizing patterns that affect the post-rehabilitation response rate. Functional magnetic resonance imaging (fMRI) determines brain activation area and connectivity patterns and has been utilized in the neurorehabilitation field. Material and Methods: Six stroke patients who suffered from moderate to severe upper extremity dysfunction were enrolled in this pilot study. Upper extremity function tests including the Fugl-Meyer assessment test for upper extremity (FMA-UE), and Wolf Motor Function Test (WMFT) were utilized before and after completing an intensive rehabilitation. The intensive rehabilitation program was conducted one hour a day for five days per week for four weeks. Moreover, fMRI was applied before initiating rehabilitation. The regions of interest were those associated with movement, including Brodmann areas (BA) BA1-BA6. Results: Six stroke patients in the sub-acute to chronic phase and ages ranging between 33 - 75 years were enrolled. All patients showed an improvement in upper limb function after four weeks of rehabilitation. Patient number one (Pt1) had the most improvement in FMA-UE, while patient number four (Pt4) recovered the most measured by WMFT. Pt1 demonstrated increased activity in all contralesional regions, whereas Pt4 had only increased activity in ipsilesional areas. Furthermore, patients with greater activation in the ipsilesional BA6 (Pt1, Pt4, Pt5, and Pt6) had better responses to the rehabilitation therapy. Conclusion: Patients with greater activation in the baseline fMRI, particularly ipsilesional BA6, had a better response to the intensive rehabilitation therapy. However, the patients with the most severe hand dysfunction showed lesser improvement despite the same brain activity as others in the initial fMRI.
文摘Quantitative susceptibility mapping(QSM)is an advanced post‐processing technique in magnetic resonance imaging that offers precise measurements of tissue magnetic susceptibility with impressive spatial resolution and sensitivity.This review examines the potential of QSM as a biomarker for early detection and monitoring of amyotrophic lateral sclerosis(ALS).Since 2015,studies have consistently reported increased QSM values in the motor regions of individuals with ALS,indicating significant iron deposition.Iron accumulation is associated with dysfunction of the upper motor neurons and faster disease progression.Notably,increased QSM values were also observed in the critical subcortical areas responsible for motor function and cognitive control.However,standardizing optimized protocols,including background field removal algorithms,phase unwrapping approaches,and methods for final susceptibility map reconstruction,has the potential to enhance the consistency and reliability of QSM as an ALS biomarker.Overall,the current body of evidence strongly supports QSM in detecting iron dysregulation associated with neurodegeneration in both motor and extra‐motor regions in ALS.Furthermore,QSM's remarkable sensitivity to early pathological iron changes and its high specificity in distinguishing ALS positions make it a promising diagnostic and progression‐tracking biomarker.
文摘Objectives Although skeletal muscle is a target of hormonal regulation,the muscle transcriptome,including messenger-RNA(mRNA),long non-coding RNAs(lncRNAs),and microRNAs(miRNAs)has not previously been studied across the menopausal transition.Thus,we took a multi-RNA-omics approach to get insight into transcriptome-wide events of menopause.Methods We included baseline and follow-up muscle samples from seven early(EarlyMT)and 17 late perimenopausal(LateMT)women transitioning to early postmenopause during the study.Total RNA was sequenced and differential expression(DE)of the transcriptome was investigated.Gene functions were investigated with pathway analyses and protein level expression with Western Blot.Results We found 30 DE mRNA genes in EarlyMT and 19 in LateMT participating in pathways controlling cell death,growth,and interactions with the external environment.Lack of protein level changes may indicate a specific role of the regulatory RNAs during menopause.10 DE lncRNA transcripts but no DE lncRNA genes were identified.No DE miRNAs were found.We identified putative regulatory networks likely to be affected by estradiol availability.Changes in gene expression were correlated with changes in body composition variables,indicating that muscularity and adiposity regulators are affected by menopausal transition.We also found correlations between gene expression and physical activity levels.Conclusions The observed DE genes and their regulatory networks offer novel mechanistic insights into factors affecting body composition during and after menopause.Our results imply that physiological deteriorations orchestrated by the muscle transcriptome likely depend on the magnitude of hormonal change and are influenced by physical activity.
文摘Myotonic dystrophy type 1 （DM1） is the most common disease causing muscle weakness and atrophy in adults. The prevalence of DM1 in China is not clear. DM1 is an autosomal dominant genetic disorder associated with the cytosine-thynline-guanine （CTG） repeat expansion in 3＇untranslated region in dystrophia myotonica-protein kinase （DMPK） gene on chromosome 19q 13.3. In DM 1, CTG pathological repeat numbers are more than 50. The size of CTG repeat expansion is associated with the time of clinical phenotypes onset and severity The coexistence of DMI and syrlngomyelia is rare. Here, we report DM1 coexisting with syringonlyelia in a Chinese male patient.
