Autoimmune mediated neuromuscular junction defects.
Summary of "Autoimmune mediated neuromuscular junction defects."
PURPOSE OF
REVIEW:
This review summarizes the recent advances on pathogenesis of antibody-mediated disorders of the neuromuscular junction, and results of studies on clinical assessment and treatments. RECENT
FINDINGS:
The incidence of myasthenia gravis, particularly in patients older than 50 years, is rising, and this is not solely due to improved disease recognition. It is uncertain how muscle specific tyrosine kinase (MuSK) antibody positive myasthenia gravis results in neuromuscular transmission failure since MuSK antibodies alter neuromuscular junction morphology without altering acetylcholine receptor numbers or turnover. Clinical tools have been developed that allow rapid and reliable disease assessment. The myasthenia gravis composite score addresses items commonly affected in myasthenia gravis, is sensitive to detect clinical change and helps guide the physician in therapy prescription. Immunosuppression remains the mainstay of myasthenia gravis treatment. Other therapies, such as rituximab, are increasingly prescribed for refractory myasthenia gravis, and drugs that inhibit complement are being explored in myasthenia gravis and Guillain-Barré syndrome (GBS). In Lambert-Eaton myasthenic syndrome (LEMS), SOX antibodies help distinguish between tumour and nontumour LEMS. Ganglioside complexes in GBS and Miller-Fisher syndrome are frequently present and are more pathogenic.
SUMMARY:
Developments in serological assays, particularly of cell-based assays, are continuing to improve the diagnosis and investigation of these conditions. Learning more on pathogenicity has helped us to apply newer therapies.
Affiliation
aInstitute of Neurological Sciences, Southern General Hospital, Glasgow, UK bNeurosciences Group, Weatherall Institute of Molecular Medicine and Department of Clinical Neurology, John Radcliffe Hospital, Oxford, UK.
Journal Details
This article was published in the following journal.
Name: Current opinion in neurology
ISSN: 1473-6551
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20651592
- DOI: http://dx.doi.org/10.1097/WCO.0b013e32833cc968
Medical and Biotech [MESH] Definitions
Neuromuscular Junction Diseases
Conditions characterized by impaired transmission of impulses at the NEUROMUSCULAR JUNCTION. This may result from disorders that affect receptor function, pre- or postsynaptic membrane function, or ACETYLCHOLINESTERASE activity. The majority of diseases in this category are associated with autoimmune, toxic, or inherited conditions.
Myasthenic Syndromes, Congenital
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Neuromuscular Blocking Agents
Drugs that interrupt transmission of nerve impulses at the skeletal neuromuscular junction. They can be of two types, competitive, stabilizing blockers (NEUROMUSCULAR NONDEPOLARIZING AGENTS) or noncompetitive, depolarizing agents (NEUROMUSCULAR DEPOLARIZING AGENTS). Both prevent acetylcholine from triggering the muscle contraction and they are used as anesthesia adjuvants, as relaxants during electroshock, in convulsive states, etc.
Neuromuscular Manifestations
Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves.
Neuromuscular Blockade
The intentional interruption of transmission at the NEUROMUSCULAR JUNCTION by external agents, usually neuromuscular blocking agents. It is distinguished from NERVE BLOCK in which nerve conduction (NEURAL CONDUCTION) is interrupted rather than neuromuscular transmission. Neuromuscular blockade is commonly used to produce MUSCLE RELAXATION as an adjunct to anesthesia during surgery and other medical procedures. It is also often used as an experimental manipulation in basic research. It is not strictly speaking anesthesia but is grouped here with anesthetic techniques. The failure of neuromuscular transmission as a result of pathological processes is not included here.
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