|Author||Cherian, Ajith ♦ Baheti, N. N. ♦ 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 ♦ Musculoskeletal and Neural Physiological Phenomena ♦ Biological Sciences|
|Abstract||Myotonic syndromes and periodic paralyses are rare disorders of skeletal muscle characterized mainly by muscle stiffness or episodic attacks of weakness. Familial forms are caused by mutation in genes coding for skeletal muscle voltage ionic channels. Familial periodic paralysis and nondystrophic myotonias are disorders of skeletal muscle excitability caused by mutations in genes coding for voltage-gated ion channels. These diseases are characterized by episodic failure of motor activity due to muscle weakness (paralysis) or stiffness (myotonia). Clinical studies have identified two forms of periodic paralyses: hypokalemic periodic paralysis (hypoKPP) and hyperkalemic periodic paralysis (hyperKPP), based on changes in serum potassium levels during the attacks, and three distinct forms of myotonias: paramyotonia congenita (PC), potassium-aggravated myotonia (PAM), and myotonia congenita (MC). PC and PAM have been linked to missense mutations in the SCN4A gene, which encodes subunit of the voltage-gated sodium channel, whereas MC is caused by mutations in the chloride channel gene (CLCN1). Exercise is known to trigger, aggravate, or relieve symptoms. Therefore, exercise can be used as a functional test in electromyography to improve the diagnosis of these muscle disorders. Abnormal changes in the compound muscle action potential can be disclosed using different exercise tests. Five electromyographic (EMG) patterns (I-V) that may be used in clinical practice as guides for molecular diagnosis are discussed.|
|Education Level||UG and PG|
|Learning Resource Type||Article|
|Educational Framework||Medical Council of India (MCI)|
|Journal||ANNALS OF INDIAN ACADEMY OF NEUROLOGY|
Ministry of Human Resource Development (MHRD) under its National Mission on Education through Information and Communication Technology (NMEICT) has initiated the National Digital Library of India (NDLI) project to develop a framework of virtual repository of learning resources with a single-window search facility. Filtered and federated searching is employed to facilitate focused searching so that learners can find out the right resource with least effort and in minimum time. NDLI is designed to hold content of any language and provides interface support for leading vernacular languages, (currently Hindi, Bengali and several other languages are available). It is designed to provide support for all academic levels including researchers and life-long learners, all disciplines, all popular forms of access devices and differently-abled learners. It is being developed to help students to prepare for entrance and competitive examinations, to enable people to learn and prepare from best practices from all over the world and to facilitate researchers to perform inter-linked exploration from multiple sources. It is being developed at Indian Institute of Technology Kharagpur.
NDLI is a conglomeration of freely available or institutionally contributed or donated or publisher managed contents. Almost all these contents are hosted and accessed from respective sources. The responsibility for authenticity, relevance, completeness, accuracy, reliability and suitability of these contents rests with the respective organization and NDLI has no responsibility or liability for these. Every effort is made to keep the NDLI portal up and running smoothly unless there are some unavoidable technical issues.
Ministry of Human Resource Development (MHRD), through its National Mission on Education through Information and Communication Technology (NMEICT), has sponsored and funded the National Digital Library of India (NDLI) project.
For any issue or feedback, please write to email@example.com