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Myasthenia gravis is an autoimmune disease due to specific antibodies inducing a neuromuscular transmission defect causing muscle fatigability. If onset of the disease may be at any age, myasthenia gravis concerns mostly young adults, in majority females. The disease characteristic features are the following: ocular symptoms (ptosis or diplopia) as main initial manifestation, extension to other muscles in 80 % of the cases, variability of the deficit, effort induced worsening, successive periods of exacerbation during the disease course, severity depending on respiratory and swallowing impairment (if rapid worsening, a myasthenic crisis is to be suspected), association with thymoma in 20 % of patients and with other various autoimmune diseases, most commonly hyperthyroidism and Hashimoto's disease. Diagnosis relies on the clinical features, improvement with cholinesterase inhibitors, detection of specific autoantibodies (anti-AChR or anti-MuSK), and significant decrement evidenced by electrophysiological tests. The points concerning specifically the internist have been highlighted in this article: diagnostic traps, associated autoimmune diseases, including inflammatory myopathies that may mimic myasthenia gravis, adverse effects of medications commonly used in internal medicine, some of them inducing myasthenic syndromes. The treatment is well codified: the treatment is well codified: (1) respect of adverse drugs contra-indications, systematically use of cholinesterase inhibitors, (2) thymectomy if thymoma completed with radiotherapy if malignant, (3) corticosteroids or immunosuppressive agent in severe or disabling form, (4) intensive care unit monitoring, plasmapheresis or intravenous immunoglobulins for patients with myasthenic crisis.
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PMID:[Myasthenia, from the internist's point of view]. 2411 93

Myasthenia gravis is characterized by muscle weakness and abnormal fatigability. It is an autoimmune disease caused by the presence of antibodies against components of the muscle membrane localized at the neuromuscular junction. In most cases, the autoantibodies are against the acetylcholine receptor (AChR). Recently, other targets have been described such as the MuSK protein (muscle-specific kinase) or the LRP4 (lipoprotein related protein 4). Myasthenia gravis can be classified according to the profile of the autoantibodies, the location of the affected muscles (ocular versus generalized), the age of onset of symptoms and thymic abnormalities. The disease generally begins with ocular symptoms (ptosis and/or diplopia) and extends to other muscles in 80% of cases. Other features that characterize MG include the following: variability, effort induced worsening, successive periods of exacerbation during the course of the disease, severity dependent on respiratory and swallowing impairment (if rapid worsening occurs, a myasthenic crisis is suspected), and an association with thymoma in 20% of patients and with other autoimmune diseases such as hyperthyroidism and Hashimoto's disease. The diagnosis is based on the clinical features, the benefit of the cholinesterase inhibitors, the detection of specific autoantibodies (anti-AChR, anti-MuSK or anti-LRP4), and significant decrement evidenced by electrophysiological tests. In this review, we briefly describe the history and epidemiology of the disease and the diagnostic and clinical classification. The neonatal form of myasthenia is explained, and finally we discuss the main difficulties of diagnosis.
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PMID:Diagnostic and clinical classification of autoimmune myasthenia gravis. 2453 Feb 33

In patients with thyroid disease, ocular involvement or thyroid ophthalmopathy is common, irrespective of their thyroid status. A common feature of thyroid eye disease is eyelid retraction, which leads to a classical starry gaze (Kocher sign). Treatment with radioactive iodine (RAI) is a known therapy for hyperthyroidism. However, this treatment may lead to or worsen thyroid ophthalmopathy. We report a case series of two patients with thyrotoxicosis, who presented with an atypical and subtle occurrence of thyroid eye disease (TED) soon after RAI therapy. One of the patients was initially diagnosed and treated for dry eyes; however, over a period of time, the patient's vision progressively deteriorated. Clinical and radiological investigations confirmed thyroid ophthalmopathy with low serum thyroid hormone levels. Both patients recovered well after immediate intensive intravenous steroid treatment. These cases highlight the importance of recognizing partial ptosis as one of the presenting signs of active TED among general practitioners and physicians.
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PMID:Optic Neuropathy in Thyroid Eye Disease: A Case Series. 2727 92

Ocular myasthenia gravis (Ocular MG, OMG) shares many clinical features with thyroid-associated orbitopathy or thyroid-associated ophthalmopathy (TAO). In the rare instance of their coexistence, clinicians may fail to diagnose ocular MG when TAO is also present. Here we report the case of a patient with both TAO and ocular MG, whose "hyperthyroidism"-most likely the hashitoxicosis variant of Hashimoto's thyroiditis-rapidly transformed to hypothyroidism after radioactive iodine therapy. This is reminiscent of a previous case of a patient with MG, in whom disease onset coincided with the methimazole-induced transformation from hyper- to hypothyroidism. It is possible that the same transformation from "hyper-" to hypothyroidism, which occurred after radioactive iodine therapy and was accompanied by hypothyroidism-associated orbitopathy (ophthalmopathy), may have induced the development of myasthenia gravis in our patient. The hypothyroidism may have been caused by the radioactive iodine therapy and/or it may simply reflect the natural course of the hashitoxicosis variant of Hashimoto's thyroiditis. The co-occurrence of hypothyroidism, hypothyroidism-associated orbitopathy (ophthalmopathy) and ocular MG has never been reported. Our case highlights the need for clinicians to focus on overlapping symptoms of hyperthyroidism and the hashitoxicosis variant of Hashimoto's thyroiditis, and to carefully differentiate between them, especially when deciding on radioactive iodine therapy. In addition, our case highlights that the possible co-occurrence of TAO should be considered when a patient with thyroid disease displays both ptosis and eye movement dysfunction, and when only the ptosis is dramatically resolved after treatment with pyridostigmine bromide.
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PMID:Rare Co-occurrence of Ocular Myasthenia Gravis and Thyroid-Associated Orbitopathy (Ophthalmopathy) in an Individual With Hypothyroidism. 3080 98


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