scholarly journals Familial Autoimmune Myasthenia Gravis: Four Patients Involving Three Generations

2000 ◽  
Vol 27 (4) ◽  
pp. 307-310 ◽  
Author(s):  
R.A. Marrie ◽  
D.J. Sahlas ◽  
G.M. Bray
Keyword(s):  
Myasthenia Gravis ◽  
Medical Records ◽  
Index Case ◽  
Family Members ◽  
Monozygotic Twins ◽  
Bulbar Symptoms ◽  
History Of ◽  
Autoimmune Myasthenia ◽  
Successive Generations ◽  
Receptor Antibodies

Background:Familial autoimmune myasthenia gravis (MG) is rare, although a genetic role for the development of autoimmune MG is suggested by concordance in monozygotic twins and the increased frequency of other autoimmune diseases in family members of myasthenics.Methods:A patient with a family history of MG was evaluated in hospital. Relatives were interviewed and medical records examined for details regarding the diagnosis of MG in three other family members.Results:The index case first experienced symptoms of MG at age 75 years. She developed generalized MG and required corticosteroids and immunosuppressive therapy to control her disease. Her father developed predominantly bulbar symptoms of MG at age 75 years. He died of complications experienced following a gastrostomy placed for continued difficulty swallowing. His brother developed similar symptoms of MG in his early 60s and died shortly after thymectomy. A 46-year-old nephew of the index case is also beginning to exhibit signs of generalized MG. Acetylcholine receptor antibodies were strongly positive in the index case and her nephew. (The assay was not available for her father and uncle).Conclusion:Four individuals in three successive generations had diagnoses of autoimmune MG. Study of familial cases such as these may clarify the contribution of genetic factors to the development of this disease.

scholarly journals HTLV-1 infection is associated with a history of active tuberculosis among family members of HTLV-1-infected patients in Peru

2007 ◽  
Vol 136 (8) ◽  
pp. 1076-1083 ◽  
Author(s):  
K. VERDONCK ◽  
E. GONZÁLEZ ◽  
W. SCHROOTEN ◽  
G. VANHAM ◽  
E. GOTUZZO
Keyword(s):  
Multivariate Analysis ◽  
Index Case ◽  
Family Members ◽  
Active Tuberculosis ◽  
T Lymphotropic Virus ◽  
Lifetime History ◽  
History Of ◽  
Index Cases

SUMMARYThe purpose of this study was to assess the association between human T-lymphotropic virus 1 (HTLV-1) and a lifetime history of active tuberculosis (TB) among relatives of HTLV-1-infected patients. We reviewed clinical charts of all relatives of HTLV-1-infected index cases who attended our institute in Lima from 1990–2004. The data of 1233 relatives was analysed; 394 (32·0%) were HTLV-1 positive. Eighty-one subjects (6·6%) had a history of active TB, including 45/394 (11·4%) HTLV-1-positive and 36/839 (4·3%) HTLV-1-negative relatives (P<0·001). On multivariate analysis, three factors were associated with TB history: HTLV-1 infection (adjusted OR 2·5, 95% CI 1·6–3·9), age (adjusted OR 1·3, 95% CI 1·1–1·5 per 10-year age increase) and relation to the index case (adjusted OR 2·6, 95% CI 1·3–5·1, for siblingsvs. spouses of index cases). In conclusion, HTLV-1 infection may increase the susceptibility to active TB. In populations where both infections are frequent, such an association could affect the dynamics of TB.

scholarly journals Two patients with a neuroendocrine tumour of the small intestine and paraneoplastic myasthenia gravis

2014 ◽  
Vol 2014 ◽  
Author(s):  
M A W Hermans ◽  
B M L Stelten ◽  
H R Haak ◽  
W W de Herder ◽  
M W Dercksen
Keyword(s):  
Small Intestine ◽  
Myasthenia Gravis ◽  
Acetylcholine Receptor ◽  
Muscle Weakness ◽  
Neuroendocrine Tumour ◽  
Stage Iv ◽  
List Type ◽  
Bulbar Symptoms ◽  
Receptor Antibodies ◽  
Learning Points

Summary This paper reports on two patients with a long-standing diagnosis of an ENETS stage IV neuroendocrine tumour (NET) of the small intestine who developed neurological symptoms. The first patient only had bulbar symptoms and tested positive for acetylcholine receptor antibodies. The second patient had more classical symptoms of fatigable diplopia and muscle weakness of the legs, but no detectable antibodies. The diagnosis of paraneoplastical myasthenia gravis (MG) was postulated. Both patients were treated with pyridostigmine for MG and octreotide for the NETs. Interestingly, treatment of the NETs resulted in improvement of myasthenic symptoms. Paraneoplastic MG has been described to occur with certain malignancies, mainly thymoma. Herein, we prove that the association with gastrointestinal NETs, however, rare, is also one to be considered by clinicians dealing with either of these diseases. The pathogenesis has yet to be elucidated. Learning points NETs are rare malignancies with a wide variety of symptoms. Paraneoplastic MG can occur with various types of malignancies. Herein, we provide evidence of paraneoplastic MG in association with a grade IV NET of the small intestine. Treatment of the NETs resulted in remission of myasthenic symptoms in one patient.

scholarly journals Colon Adenoma Implicating Myasthenia Gravis: A Case Report of a Patient with Postcolectomy Complications

2016 ◽  
Vol 2016 ◽  
pp. 1-2
Author(s):  
Y. Papachatzakis ◽  
E. Tseliou ◽  
I. Tatouli ◽  
I. Dialoupi ◽  
F. Michas ◽  
...  
Keyword(s):  
Case Report ◽  
Myasthenia Gravis ◽  
Plasma Exchange ◽  
Bowel Obstruction ◽  
Surgical Repair ◽  
Myasthenic Crisis ◽  
Colon Adenoma ◽  
Bulbar Symptoms ◽  
Anastomosis Leakage ◽  
Receptor Antibodies

We report the case of a 63-year-old patient with myasthenia gravis (MG) due to acetylcholine receptor antibodies (AChR) who underwent colectomy due to colon adenoma and developed myasthenic crisis and anastomosis leakage after surgery. The patient underwent two plasma exchanges, 4 and 6 days preoperatively, and received intravenous prednisolone and immunoglobulin infusion due to the crisis, which included primarily bulbar symptoms. The patient developed on the 10th postoperative day bowel obstruction symptoms and anastomosis leakage which required surgical repair and ileostomy. Bowel obstruction occurred in a patient with AChR related myasthenia after plasma exchange and during immunosuppression although it is more commonly reported in patients with thymoma related myasthenia.

scholarly journals Factors Affecting Generalization of Ocular Myasthenia Gravis in Palembang

2021 ◽  
Vol 5 (1) ◽  
pp. 185-193
Author(s):  
Zahratul Riadho Farid ◽  
Devi Azri Wahyuni
Keyword(s):  
Myasthenia Gravis ◽  
Limb Weakness ◽  
Factors Affecting ◽  
Ocular Myasthenia ◽  
Ocular Myasthenia Gravis ◽  
Bulbar Symptoms ◽  
Levator Palpebrae ◽  
History Of ◽  
Conversion Time ◽  
Myastenia Gravis

Introduction. Ocular myasthenia gravis (OMG) is an autoimmune disease which is characterized by weakness of extraocular muscles, levator palpebrae and orbicularis oculi, resulting in ptosis and binocular diplopia. Nearly all patients present with eyelid and extra ocular muscles involvement. Approximately 30% to 80% of patients with OMG experience a conversion to generalized myasthenia gravis (GMG) within 2 years. There are not only have ptosis and diplopia but also limb weakness,bulbar symptoms, or even respiratory failure. This study was aimed to observe the clinical features of OMG to GMG and risk factors and median time to conversion of OMG to GMG of myasthenia gravis patients in Mohammad Hoesin General Hospital Palembang. Method. This study is a cohort retrospective study and the data were collected from the medical records of 91 patients who were registered as myasthenia gravis patients during September 2018 to March 2020. Sosiodemographic and clinical characteristics, including onset of OMG to GMG, history of smoking, presence of thymic abnormalities, and medications received were reviewed retrospectively. Result. A total of 91 OMG patients were observed in this study with 32 (35,2%) patients converted from ocular myastenia gravis to general myastenia gravis. Median conversion time to GMG was 34 months. Risk factor for convertion cases of OMG to MGG was receiving immunosupressive agents (Risk: 14.7, 95% CI 4.83, 44.7), thymus hyperplasia (Risk: 3.36, CI 95% 0.33, 33.6), Female (Risk: 2.41, 95% CI 0.94, 6.17), Smoking (Risk: 1.56, 95% CI 0.31, 7.81). Conclusion. Ptosis was the definitive sign for OMG in this study, with all patients had ptosis, thus it needs the colaboration from neuroophthalmologist and neurologist to diagnose and manage this case. Most of converted case was female and those who receive an immunosupressive agent therapy.

VH gene family utilization of anti-acetylcholine receptor antibodies in experimental autoimmune myasthenia gravis

1993 ◽  
Vol 43 (1-2) ◽  
pp. 113-124 ◽  
Author(s):  
Yvo M.F. Graus ◽  
Jan J.G.M. Verschuuren ◽  
Nicolaas A. Bos ◽  
Peter J.C. van Breda Vriesman ◽  
Marc H. De Baets
Keyword(s):  
Myasthenia Gravis ◽  
Gene Family ◽  
Acetylcholine Receptor ◽  
Experimental Autoimmune Myasthenia Gravis ◽  
Autoimmune Myasthenia ◽  
Vh Gene ◽  
Receptor Antibodies ◽  
Experimental Autoimmune ◽  
Anti Acetylcholine
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