|Author||Kumar, R. S. ♦ Kuruvilla, A.|
|Source||Sree Chitra Tirunal Institute for Medical Sciences & Technology|
|Publisher||Annals of Indian Academy of Neurology|
|Subject Domain (in DDC)||Technology ♦ Medicine & health ♦ Diseases|
|Subject Domain (in MeSH)||Nervous System Diseases ♦ Diseases|
|Abstract||Congenital myasthenic syndromes (CMSs) are a heterogeneous group of disorders, characterized by dysfunction of neuromuscular junction (NMJ) transmission. These syndromes are genetically inherited and are present since birth. Some have characteristic clinical or electrodiagnostic features but in many cases determination of the specific form requires genetic studies or specialized morphological and electrophysiological studies on muscle tissue. We report a case of a 4-year-old boy with progressive ptosis and limitation of ocular movements who was diagnosed as slow-channel CMS based on the characteristic electrodiagnostic features. Repetitive compound muscle action potentials (R-CMAPs) were recorded after single nerve stimulus, with decremental response after repetitive trains performed at 3 Hz. CMSs are at times clinically difficult to distinguish from acquired myasthenia. The characteristic clinical and electrodiagnostic features help in the diagnosis and enable rational therapy. In this article we discuss the characteristics of synaptic R-CMAPs.|
|Education Level||UG and PG|
|Learning Resource Type||Article|
|Educational Framework||Medical Council of India (MCI)|
|Journal||ANNALS OF INDIAN ACADEMY OF NEUROLOGY|
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