Gene/Protein Disease Symptom Drug Enzyme Compound
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A 54-year-old woman was admitted to our hospital because of diplopia, dysphagia, dropped head, and muscle weakness with easy fatigability. A neurological examination showed bilateral ptosis, ocular motility disorder, dysphagia, and weakness of the neck extensor muscles. Edrophonium and repetitive nerve stimulation tests of the thenar muscles showed positive results. The serum titer of anti-acetylcholine receptor antibody was negative. A thymoma was not detected in her chest CT. Finally, she was diagnosed with anti-MuSK antibody-positive myasthenia gravis based on the high serum titer of anti-MuSK antibody (239 nmol/l). Her symptoms improved after administration of prednisolone. However, the symptoms were aggravated when the prednisolone dosage was reduced, and the titer of anti-MuSK antibody rose at the same time. We evaluated the possible association between changes in the severity of her clinical symptoms and the titer of the antibody during prednisolone therapy. It was revealed that the titer of the antibody was correlated to the severity of clinical symptoms expressed by a QMG (Quantitative Myasthenia Gravis) score. These findings indicate that monitoring the titer of anti-MuSK antibody can be useful for assessing disease activity as well as decision making during treatment.
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PMID:[Titer of anti-muscle-specific receptor tyrosine kinase (MuSK) antibody correlated with symptomatic improvement in response to corticosteroid therapy in a patient with anti-MuSK antibody-positive myasthenia gravis: a case report]. 1763 10

Anti-MuSK antibodies have been reported in about 40-50% of patients with seronegative myasthenia gravis. Curiously, this condition has never been reported in association with fetal or transient neonatal myasthenia gravis, despite a known female predominance. We report the case of a 22-year-old woman who developed seronegative, mild steroid-responsive myasthenia gravis. When aged 26, she gave birth to a baby boy with neonatal myasthenia gravis characterized by hypotonia, stridor and sucking difficulties. Intubation was required for a few weeks. Anti-MuSK antibodies were assessed and found positive in both patients. Progressive hydramnios during the last trimester, with a decrease in spontaneous fetal mobility in the last weeks, long-lasting stridor, ptosis and occasional difficulties in swallowing liquids till two years of age, despite anti-MuSK antibodies becoming negative, suggest a fetal onset. The possible pathophysiology of this disorder, based on recent findings on the expression and function of MuSK protein, is reviewed.
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PMID:Severe neonatal myasthenia due to maternal anti-MuSK antibodies. 1843 54

We report the case of a 17.5-year old girl with generalized myasthenia gravis (MG). When she was 13, she started to complain of episodic diplopia, ptosis and mild fatigability of upper and lower extremity muscles. She was diagnosed with MG 3 years later, after exacerbation of her limb muscle weakness. Acetylcholine receptor antibody was positive (2.56 nmol/l, n < 0.4 nmol/l), anti-MuSK antibodies were not tested at that time. She was treated with a thymectomy. After the operation a gradual worsening of her MG was seen; she reported pirydostygmine intolerance. On retesting, acetylcholine receptor antibodies were negative and she was positive for anti-MuSK antibodies. She received immunosuppressive treatment with prednisone and azathioprine with clinical improvement. She is the third reported patient diagnosed with acetylcholine receptor antibody-positive MG, who became MuSK-positive after thymectomy. Recognition of such clinical patterns may be important for decision making in myasthenia gravis patients.
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PMID:Juvenile seropositive myasthenia gravis with anti-MuSK antibody after thymectomy. 1954 60

In MG, anti-AChR or anti-MuSK abs impair neuromuscular transmission. Partial inhibition of AChE can ameliorate symptoms, while a complete block causes a cholinergic blockade. We found anti-AChE abs in 115/240 MG patients, with no correlation with sex, age at onset, thymus pathology, presence of anti-AChR or anti-MuSK antibodies. We found a correlation with the ocular form of the disease, and with milder forms of MG not requiring immunosuppressants; moreover, when we considered only those patients who were off AChEI therapy, we found that ocular patients were positive for anti-AChE abs, while generalized patients were negative. According to an experimental model, we hypothesize that anti-AChE abs could contribute to ptosis through an inhibition of the sympathetic innervation of the tarsal muscle.
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PMID:Anti-acetylcholinesterase antibodies associate with ocular myasthenia gravis. 1994 97

We report a 60-year-old male with thymoma-associated myasthenia gravis with anti-MuSK antibodies. In October 2010, he had diplopia, ptosis, and dysphagia. He was diagnosed to have MG in February 2011. The neurological examination disclosed external ophthalmoplegia, bilateral ptosis, mild dysphagia, and fatigability. Repetitive nerve stimulation of the right facial nerve showed CMAP decrement greater than 10%. Patients showed an improvement in ptosis after administration of edrophonium.Anti-acetylcholine receptor antibody was negative, and anti-muscle specific receptor tyrosine kinase antibody was 66.8 nmol/l (cut-off value: 0.05 nmol/l). Prednisolone (50 mg every other day) were started. Contrast-enhanced chest MRI showed a mediastinal mass suggestive of thymoma. Extended thymectomy was performed in March 2011. Histological examination disclosed a type B1 thymoma. After resection of the tumor, the symptoms of MG improved with prednisolone (100 mg every other day). This is a rare case of MG with anti-MuSK antibodies and thymoma, which has been reported previously only in 2 cases.
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PMID:[A case of thymoma-associated myasthenia gravis with anti-MuSK antibodies]. 2371 86

Anti-MuSK positive myasthenia gravis (MuSK-MG) is rare prepuberty. We report a female patient with MuSK-MG starting at 3.5years with ptosis as the sole symptom for 2years. A brief period of generalization was followed by complete stable remission for 6years. Prolonged ocular symptoms and long remissions are not features of MuSK-MG, but are often seen in prepubertal onset MG. The patient then presented at age 12 with moderately severe symptoms which were almost confined to oculobulbar muscles and were unresponsive to pyridostigmine. She was dependent on corticosteroids and thymectomy did not seem to be effective. She was later noted to have tongue atrophy after a period without treatment. Our patient thus presented with features seen in many prepubertal patients, but the later course was quite typical of MuSK-MG.
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PMID:Prepubertal anti-Musk positive myasthenia gravis with long remission. 2407 1

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

BACKGROUND HIV infections with concomitant immunologically-mediated disorders have been frequently described but there has been little research on the association between HIV and myasthenia gravis. MuSK myasthenia gravis coexisting with HIV is an even a rarer entity and can occur as a part of immune restoration disease. We report the case of a patient with asymptomatic HIV infection who presented with new-onset MuSK myasthenia gravis. CASE REPORT A 44-year-old African-American woman with HIV since 2004 and on highly active antiretroviral therapy (HAART) presented to the ED with complains of double vision and difficulty swallowing for 2 weeks. The patient was intermittently on HAART therapy. On examination, she had bilateral ptosis, weak orbicularis oris and orbicularis oculi, along with mild lateral gaze palsy of the left eye. Her CD4 count was 383 and the viral load was undetectable. An MRI of the brain produced normal results and a CT chest did not show thymus enlargement. Due to worsening symptoms and high suspicion for myasthenia gravis, she was started on IVIG at 0.4 mg/kg/day for 5 days, and her symptoms markedly improved. She was found to have strongly positive MuSK antibody and negative Ach receptor antibody. Repetitive nerve stimulation showed a 13% decrease in the right median nerve, which confirmed the diagnosis. She was subsequently discharged to home on pyridostigmine. Azathioprine was added at clinic follow-up. The patient continues to improve. CONCLUSIONS As the use of antiretroviral therapy increases, immune reconstitution syndromes have become more common. Rare associations like HIV and MuSK myasthenia gravis are being increasingly reported. The use of immunosuppressants in the treatment of these conditions should be carefully evaluated.
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PMID:Comorbid Human Immunodeficiency Virus (HIV) and Muscle-Specific Kinase (MuSK) Myasthenia Gravis: A Case Report and Literature Review. 2842 53

Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. A 61-year-old female and her older sister showed bilateral ptosis, facial and proximal limb weakness, and scoliosis since childhood. Another female sibling had milder signs, while other family members were asymptomatic. Facial nerve repetitive stimulation in the proband showed decrement of muscle responses. Single fiber EMG revealed increased jitter and blocking. Muscle biopsy showed type 2-fiber atrophy, without tubular aggregates. Mutational analysis in the three affected siblings revealed two compound heterozygous mutations in DOK7: c.1457delC, that predicts p.Pro486Argfs*13 and truncates the protein C-terminal domain, and c.473G>A, that predicts p.Arg158Gln and disruption of the dok7-MuSK interaction in the phosphotyrosine binding (PTB) domain. Unaffected family members carried only one or neither mutation.
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PMID:Congenital Myasthenic Syndrome due to DOK7 mutations in a family from Chile. 2911 59


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