Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a new case of neuromuscular block overlap between Myasthenia Gravis and Eaton-Lambert syndrome. A 64-year-old man with a 4-months history of gait disturbance was admitted for ophthalmoplegia worsening during exercise and decreasing at rest. Clinical examination after exercise, revealed limbs weakness and areflexia, palsy of the left eye abduction and a left ptosis. The level of anti-acetylcholin-receptor antibodies was high. Electrophysiological explorations revealed a decrement at 3 Hz and a increment at 30 Hz, with a reduction in amplitude of the initial motor potential. This patient improved under a combination of guanidine and anticholinesterase drugs. From this case and 9 previously reported cases, we propose 4 criteria for the diagnosis of such neuromuscular blocks: 1) exercising symptoms and signs, including areflexia, 2) presence of anti-acetylcholin-receptor antibodies, 3) reduction of the amplitude of the initial motor potential, with a decrement at 3 Hz, and an increment at 30 Hz, and 4) clinical and electrophysiological improvement under guanidine and anticholinesterasic drugs therapy.
 ...
PMID:[Mixed pre- and postsynaptic neuromuscular block]. 160 33

A 60-year-old man with a 40-year history of seronegative ocular myasthenia gravis (MG) developed generalized weakness cumulating crisis over 2 years. On admission, ophthalmoplegia, severe ptosis and marked generalized weakness were observed without autonomic symptoms and signs. The deep tendon reflexes were decreased, but were normalized after repeated muscle contractions. EMG of the abductor digiti minimi muscle showed low amplitude in compound muscle action potentials (0.6 mV), waxing phenomenon (292%) with 20 Hz repetitive nerve stimulation (RNS), waning phenomenon (34%) in 3 Hz RNS, and posttetanic facilitation (393%). Stimulated single fiber EMG showed reduced jitter with higher stimulation rates. Serum anti-P/Q-type voltage-gated calcium channel antibodies were negative with no evidence of malignancy. Sensitive assay of acetylcholine receptor antibody in serum revealed a positive titer, while conventional assay was negative. A muscle biopsy was performed and immune complex deposition was demonstrated at the endplate. A nearly complete clinical remission and normalization of electrophysiological features followed immunoadsorption and prednisolone therapy. A sensitive immunoassay of acetylcholine receptor antibodies and immunolocalization of complement at the endplate are useful diagnostic tools in cases presenting with features of myasthenia gravis and Lambert-Eaton myasthenic syndrome.
 ...
PMID:[Myasthenia gravis with electrophysiological features of Lambert-Eaton myasthenic syndrome: usefulness of serum autoantibodies assay and neuromuscular junction biopsy]. 1042 44

This study was undertaken to analyse the clinical and immunological features in a large group of Lambert-Eaton Myasthenic Syndrome (LEMS) patients (n = 110). In the Japanese LEMS patients studied, there was a male predominance with a male to female ratio of 3:1. The age at onset of neurological symptoms ranged between 17 and 80 years with a mean of 62 years. Malignancy was detected in 69% of the patients, of whom 61% had small cell lung carcinoma (SCLC). Neurological symptoms preceded a diagnosis of malignancy in 84% of cases. The neurological findings were similar in all patients and consisted of lower limb weakness in 97%, upper limb weakness in 80%, hyporeflexia in 85%, autonomic dysfunction in 37% (dry mouth in 31%, constipation in 11%, impaired sweating, urinary disturbance, impotence, and blurred vision in less than 10%), blepharoptosis in 28% and ophthalmoplegia in 5%. Signs of cerebellar involvement are noted in 9% and all of these patients had SCLC. Of 110 patients with LEMS, 85% had detectable antibodies against P/Q-type voltage-gated calcium channel (P/Q-type VGCC). Seronegative patients (15%) had similar neurological findings, but a lower incidence of SCLC than seropositive patients. The clinical features of our patients were very similar to those observed in British LEMS patients (n = 50), but autonomic features in our study were less prevalent than reported in British patients.
 ...
PMID:[The Lambert-Eaton myasthenic syndrome: a study of 110 Japanese cases]. 1079 Oct 87

Myasthenia gravis (MG) is a rare, autoimmune neuromuscular junction disorder. Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolated oropharyngeal or limb weakness is less common. The course is variable, and most patients with initial ocular weakness develop bulbar or limb weakness within three years of initial symptom onset. MG results from antibody-mediated, T cell-dependent immunologic attack on the endplate region of the postsynaptic membrane. In patients with fatigable muscle weakness, the diagnosis of MG is supported by: 1. pharmacologic testing with edrophonium chloride that elicits unequivocal improvement in strength; 2. electrophysiologic testing with repetitive nerve stimulation (RNS) studies and/or single-fiber electromyography (SFEMG) that demonstrates a primary postsynaptic neuromuscular junctional disorder; and 3. serologic demonstration of acetylcholine receptor (AChR) or muscle-specific tyrosine kinase (MuSK) antibodies. Differential diagnosis includes congenital myasthenic syndromes, Lambert Eaton syndrome, botulism, organophosphate intoxication, mitochondrial disorders involving progressive external ophthalmoplegia, acute inflammatory demyelinating polyradiculoneuropathy (AIDP), motor neuron disease, and brainstem ischemia. Treatment must be individualized, and may include symptomatic treatment with cholinesterase inhibitors and immune modulation with corticosteroids, azathioprine, cyclosporine, and mycophenolate mofetil. Rapid, temporary improvement may be achieved for myasthenic crises and exacerbations with plasma exchange (PEX) or intravenous immunoglobulin (IVIg). Owing to improved diagnostic testing, immunotherapy, and intensive care, the contemporary prognosis is favorable with less than five percent mortality and nearly normal life expectancy.
 ...
PMID:Myasthenia gravis. 1798 28

Paraneoplastic syndromes may affect the central and peripheral nervous system of adults and children with cancer. Neurological symptoms may resolve with treatment of the underlying neoplasm. We report the case of a child with Wilms tumor who presented with generalized weakness, fatigue, ptosis, hypokinesis, dysarthria, urinary retention, facial diplegia, ophthalmoplegia, and autonomic dysfunction. Routine electrodiagnostic testing, including repetitive nerve stimulation, was normal. Clinical features and stimulation single-fiber electromyogram were consistent with a neuromuscular junction transmission disorder, likely Lambert-Eaton myasthenic syndrome. The child's neurological status returned to normal with successful treatment of the tumor.
 ...
PMID:Wilms tumor presenting with Lambert-Eaton myasthenic syndrome. 2361 77