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Browse result for Myasthenic syndrome

※ introduction

    Lambert¨CEaton myasthenic syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness of the limbs. It is also known as myasthenic syndrome, Eaton¨CLambert syndrome, and when related to cancer, carcinomatous myopathy. Around 60% of those with LEMS have an underlying malignancy, most commonly small-cell lung cancer; it is therefore regarded as a paraneoplastic syndrome (a condition that arises as a result of cancer elsewhere in the body). It is the result of antibodies against presynaptic voltage-gated calcium channels, and likely other nerve terminal proteins, in the neuromuscular junction (the connection between nerves and the muscle that they supply). The diagnosis is usually confirmed with electromyography and blood tests; these also distinguish it from myasthenia gravis, a related autoimmune neuromuscular disease. If the disease is associated with cancer, direct treatment of the cancer often relieves the symptoms of LEMS. Other treatments often used are steroids, azathioprine, which suppress the immune system, intravenous immunoglobulin, which outcompetes autoreactive antibody for Fc receptors, and pyridostigmine and 3,4-diaminopyridine, which enhance the neuromuscular transmission. Occasionally, plasma exchange is required to remove the antibodies. The condition affects about 3.4 per million people. LEMS usually occurs in people over 40 years of age, but may occur at any age.

Reference
Wiki: Myasthenic syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD02182B2RTY44649
MYO9A
Unconventional myosin-IXa
Homo sapiens
PTMD02311O0046837579
AGRN
Agrin [Cleaved into: Agrin N-terminal 110 kDa subunit; Agrin C-terminal 110 kDa subunit; Agrin C-terminal 90 kDa fragment ; Agrin C-terminal 22 kDa fragment ]
Homo sapiens
PTMD02523O151464593
MUSK
Muscle, skeletal receptor tyrosine-protein kinase
Homo sapiens
PTMD04583P237636843
VAMP1
Vesicle-associated membrane protein 1
Homo sapiens
PTMD04704P283291103
CHAT
Choline O-acetyltransferase
Homo sapiens
PTMD05773P608806616
SNAP25
Synaptosomal-associated protein 25
Homo sapiens
PTMD06215Q048441145
CHRNE
Acetylcholine receptor subunit epsilon
Homo sapiens
PTMD06241Q062102673
GFPT1
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1
Homo sapiens
PTMD06255Q070011144
CHRND
Acetylcholine receptor subunit delta
Homo sapiens
PTMD07405Q4J6C69581
PREPL
Prolyl endopeptidase-like
Homo sapiens
PTMD09859Q8N9I012783
SYT2
Synaptotagmin-2
Homo sapiens
PTMD11211Q96F2519985
ALG14
UDP-N-acetylglucosamine transferase subunit ALG14
Homo sapiens