Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled mot...Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled motor neuron firing. The pathophysiology of the disease is not completely understood;however, high titers of Glutamic acid decarboxylase antibodies (anti-GAD Ab) have been found in such patients, which leads to its high association with the disease. We present a case of a 52-year-old female with a 20-year history of ongoing gait and balance issues. She is diagnosed with multiple conditions, including stiff person syndrome (GAD+), spinocerebellar ataxia with epilepsy, systemic lupus erythematosus, type 1 diabetes mellitus, IgA deficiency, hypothyroidism, and pernicious anemia. She presented in our institution with a history of a recent fall from a wheelchair. We review the case presentation and association of anti-GAD antibodies with stiff person syndrome and its treatment.展开更多
BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme tha...BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme that catalyzes the production ofγ-aminobutyric acid(GABA),a major inhibitory neurotransmitter of the central nervous system.SPS is an autoimmune disease triggered by antiglutamic acid decarboxylase antibody(anti-GAD Ab).Clinically,anti-GAD Ab is associated with SPS,type 1 diabetes mellitus(T1DM),and other autoimmune diseases.AIM To investigate the link of autoimmune endocrine disorders with anti-GAD Ab in SPS subjects.METHODS This retrospective study was approved by the Institutional Review Board of Chang Gung Memorial Hospital,Taiwan.We collected the patients with SPS from January 2001 to June 2018.By reviewing 14 patients from medical records,we analyzed the clinical findings with coexisting autoimmune diseases,particularly diabetes mellitus and thyroid disease,which are associated with anti-GAD antibody titers or other immunological test results(anti-thyroid peroxidase and anti-nuclear antibodies).We also evaluated malignancies,major complications,and reported treatment to improve symptoms.Anti-GAD antibodies were measured using radioimmunoassay and enzyme-linked immunosorbent assay(ELISA).The cut-off values of these tests are<1 U/mL and<5 U/mL,respectively.RESULTS The median age of all patients was 39.3(range,28.0-54.0)years with a median follow-up period of 6.0(2.7-13.3)years.Five(35.7%)patients were female;twelve(85.7%)were diagnosed with classic SPS and two(14.3%)with SLS.The median age of onset of symptoms was 35.0(26.0-56.0)years with a median follow-up duration of 9.0(2.1-14.9)years in the classic SPS group;the SLS group had a median age of onset of 46.7 years and a shorter follow-up duration of 4.3 years.Among nine classic SPS patients who underwent the anti-GAD Ab test,three were anti-GAD Ab seropositive and each of these three patients also had T1DM,latent autoimmune diabetes in adults,and autoimmune thyroid disease,respectively.In contrast,other rare autoimmune diseases co-existed in six anti-GAD Ab seronegative SPS patients.None of the SLS patients had additional autoimmune diseases.CONCLUSION While typical clinical symptoms are crucial for the diagnosis of SPS,the presence of anti-GAD autoantibody may consolidate the diagnosis and predict the association with other autoimmune diseases.展开更多
Stiff-Person syndrome is a rare autoimmune neurologic disorder that affects the central nervous system by inhibiting production of the neurotransmitter gamma-aminobutyric acid. Painful muscle spasms and rigidity are t...Stiff-Person syndrome is a rare autoimmune neurologic disorder that affects the central nervous system by inhibiting production of the neurotransmitter gamma-aminobutyric acid. Painful muscle spasms and rigidity are the clinical manifestations of the disease. An ideal anesthetic technique has not been described for this patient population because of the rarity of the disease. This case report describes the successful use of total intravenous anesthesia in a patient with Stiff- Person Syndrome.展开更多
目的分析僵人综合征(stiff-person syndrome,SPS)的临床、电生理特点和治疗。方法回顾性收集8例SPS患者的临床、电生理和实验室检查资料。结果 8例均表现为经典型SPS,进行性肌肉强直痉挛,阵发性加重,均累及腰背部脊旁肌和双下肢,其他可...目的分析僵人综合征(stiff-person syndrome,SPS)的临床、电生理特点和治疗。方法回顾性收集8例SPS患者的临床、电生理和实验室检查资料。结果 8例均表现为经典型SPS,进行性肌肉强直痉挛,阵发性加重,均累及腰背部脊旁肌和双下肢,其他可受累部位为胸壁、腹壁、上肢、颈部和头面部。7例行肌电图,5例受累肌肉安静时可见持续性运动单位电位活动(continuous motor unit activity,CMUA),2例注射地西泮后CMUA明显减少。5例送检抗GAD抗体,1例阳性。8例使用苯二氮卓类药物后症状减轻;3例联合免疫治疗(糖皮质激素1例,IVIG 2例)症状进一步改善;2例伴胸腺瘤,胸腺切除术后症状完全好转。结论 SPS表现为进行性肌肉强直痉挛,阵发性加重,最常累及躯干和双下肢肌肉,肌电图表现为受累肌肉安静时出现CMUA,苯二氮卓类药物联合免疫治疗有效,合并胸腺瘤者治疗肿瘤后SPS症状好转。展开更多
文摘Stiff Person Syndrome (SPS) is a rare autoimmune disease related to the lack of inhibition of excitatory neurons in the central nervous system leading to multiple motor dysfunction and symptoms due to uncontrolled motor neuron firing. The pathophysiology of the disease is not completely understood;however, high titers of Glutamic acid decarboxylase antibodies (anti-GAD Ab) have been found in such patients, which leads to its high association with the disease. We present a case of a 52-year-old female with a 20-year history of ongoing gait and balance issues. She is diagnosed with multiple conditions, including stiff person syndrome (GAD+), spinocerebellar ataxia with epilepsy, systemic lupus erythematosus, type 1 diabetes mellitus, IgA deficiency, hypothyroidism, and pernicious anemia. She presented in our institution with a history of a recent fall from a wheelchair. We review the case presentation and association of anti-GAD antibodies with stiff person syndrome and its treatment.
文摘BACKGROUND Stiff-person syndrome(SPS)and its subtype,stiff limb syndrome(SLS),are rare neurological disorders characterized by progressive muscular rigidity and spasms.Glutamic acid decarboxylase(GAD)is the enzyme that catalyzes the production ofγ-aminobutyric acid(GABA),a major inhibitory neurotransmitter of the central nervous system.SPS is an autoimmune disease triggered by antiglutamic acid decarboxylase antibody(anti-GAD Ab).Clinically,anti-GAD Ab is associated with SPS,type 1 diabetes mellitus(T1DM),and other autoimmune diseases.AIM To investigate the link of autoimmune endocrine disorders with anti-GAD Ab in SPS subjects.METHODS This retrospective study was approved by the Institutional Review Board of Chang Gung Memorial Hospital,Taiwan.We collected the patients with SPS from January 2001 to June 2018.By reviewing 14 patients from medical records,we analyzed the clinical findings with coexisting autoimmune diseases,particularly diabetes mellitus and thyroid disease,which are associated with anti-GAD antibody titers or other immunological test results(anti-thyroid peroxidase and anti-nuclear antibodies).We also evaluated malignancies,major complications,and reported treatment to improve symptoms.Anti-GAD antibodies were measured using radioimmunoassay and enzyme-linked immunosorbent assay(ELISA).The cut-off values of these tests are<1 U/mL and<5 U/mL,respectively.RESULTS The median age of all patients was 39.3(range,28.0-54.0)years with a median follow-up period of 6.0(2.7-13.3)years.Five(35.7%)patients were female;twelve(85.7%)were diagnosed with classic SPS and two(14.3%)with SLS.The median age of onset of symptoms was 35.0(26.0-56.0)years with a median follow-up duration of 9.0(2.1-14.9)years in the classic SPS group;the SLS group had a median age of onset of 46.7 years and a shorter follow-up duration of 4.3 years.Among nine classic SPS patients who underwent the anti-GAD Ab test,three were anti-GAD Ab seropositive and each of these three patients also had T1DM,latent autoimmune diabetes in adults,and autoimmune thyroid disease,respectively.In contrast,other rare autoimmune diseases co-existed in six anti-GAD Ab seronegative SPS patients.None of the SLS patients had additional autoimmune diseases.CONCLUSION While typical clinical symptoms are crucial for the diagnosis of SPS,the presence of anti-GAD autoantibody may consolidate the diagnosis and predict the association with other autoimmune diseases.
文摘Stiff-Person syndrome is a rare autoimmune neurologic disorder that affects the central nervous system by inhibiting production of the neurotransmitter gamma-aminobutyric acid. Painful muscle spasms and rigidity are the clinical manifestations of the disease. An ideal anesthetic technique has not been described for this patient population because of the rarity of the disease. This case report describes the successful use of total intravenous anesthesia in a patient with Stiff- Person Syndrome.
文摘目的分析僵人综合征(stiff-person syndrome,SPS)的临床、电生理特点和治疗。方法回顾性收集8例SPS患者的临床、电生理和实验室检查资料。结果 8例均表现为经典型SPS,进行性肌肉强直痉挛,阵发性加重,均累及腰背部脊旁肌和双下肢,其他可受累部位为胸壁、腹壁、上肢、颈部和头面部。7例行肌电图,5例受累肌肉安静时可见持续性运动单位电位活动(continuous motor unit activity,CMUA),2例注射地西泮后CMUA明显减少。5例送检抗GAD抗体,1例阳性。8例使用苯二氮卓类药物后症状减轻;3例联合免疫治疗(糖皮质激素1例,IVIG 2例)症状进一步改善;2例伴胸腺瘤,胸腺切除术后症状完全好转。结论 SPS表现为进行性肌肉强直痉挛,阵发性加重,最常累及躯干和双下肢肌肉,肌电图表现为受累肌肉安静时出现CMUA,苯二氮卓类药物联合免疫治疗有效,合并胸腺瘤者治疗肿瘤后SPS症状好转。
