Background: Antibodies to a muscle-specific receptor tyrosine kinase (MuSK) h ave been found in approximately 40%of patients with generalized myasthenia grav is who are seronegative for the antiacetylcholine receptor ...Background: Antibodies to a muscle-specific receptor tyrosine kinase (MuSK) h ave been found in approximately 40%of patients with generalized myasthenia grav is who are seronegative for the antiacetylcholine receptor antibody. Many of the patients with anti-MuSK antibodies have prominent oculobulbar symptoms or weak ness of the neck and respiratory muscles, but patients with ocular myasthenia ha ve not been described. Objective: To report a case of ocular myasthenia due to a nti-MuSK antibodies. Patient: A young woman with ocular myasthenia and antibodi es to MuSK. Results: Anti-MuSK antibody was detected by radioimmunoassay using highly purified MuSK recombinant antigen. Conclusion: Ocular myasthenia gravis i s a presentation of the anti-MuSK antibody syndrome.展开更多
To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular...To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders. Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%)-. Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4%and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1%and 38.4%) and were found rarely in infants with other disorders (specificity 88.6%and 75.0%). Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia.展开更多
文摘Background: Antibodies to a muscle-specific receptor tyrosine kinase (MuSK) h ave been found in approximately 40%of patients with generalized myasthenia grav is who are seronegative for the antiacetylcholine receptor antibody. Many of the patients with anti-MuSK antibodies have prominent oculobulbar symptoms or weak ness of the neck and respiratory muscles, but patients with ocular myasthenia ha ve not been described. Objective: To report a case of ocular myasthenia due to a nti-MuSK antibodies. Patient: A young woman with ocular myasthenia and antibodi es to MuSK. Results: Anti-MuSK antibody was detected by radioimmunoassay using highly purified MuSK recombinant antigen. Conclusion: Ocular myasthenia gravis i s a presentation of the anti-MuSK antibody syndrome.
文摘To evaluate retrospectively the prevalence of neuromuscular disorders in 83 newborns referred to a tertiary care center because of hypotonia and weakness and/or contractures, with a possible diagnosis of neuromuscular disorder. We also aimed to establish whether clinical signs could help to identify infants with neuromuscular disorders. Sixty-six of the 83 infants who fulfilled the inclusion criteria (79.5%) had an identifiable disorder, which was a neuromuscular disorder in 39 (46.9%)-. Absent or extremely reduced antigravity movements were mainly found in infants with neuromuscular disorders (sensitivity and specificity 97.4%and 75%), whereas partial range antigravity movements were more frequent in infants with other diagnosis. Contractures were mainly found in infants with peripheral nerve or muscle involvement but also were relatively frequent in infants with genetic or metabolic syndromes (sensitivity 69.2%, specificity 61.3%). Reduced fetal movements and abnormal liquor were frequent but not present consistently in infants with neuromuscular disorders (sensitivity 46.1%and 38.4%) and were found rarely in infants with other disorders (specificity 88.6%and 75.0%). Severe muscle weakness and contractures are the most reliable indicators of a neuromuscular disorder and should be carefully assessed in an infant with neonatal hypotonia.
