Auswahl der wissenschaftlichen Literatur zum Thema „Muscle-Specific Kinase (MuSK)“

Ten seminal papers on disorders of the neuromuscular junction are described, covering historical aspects, recent advances in immunological, biological, and genetic researches, and future perspectives. Early descriptions of myasthenia gravis (MG) date back to the seventeenth century, and MG acquired its name in the nineteenth century. The first symptomatic treatment with cholinesterase inhibitors was reported in 1934, leading to the development of modern immunological therapies. Following the discovery of anti-MuSK (muscle-specific tyrosine kinase) antibody in 2001, MG is currently classified i

Diseases that affect the neuromuscular junction (NMJ) interfere with normal nerve transmission and cause weakness of voluntary muscles. The two most commonly encountered are acquired myasthenia gravis (MG) and the Lambert–Eaton myasthenic syndrome (LEMS). Acquired MG is an autoimmune disease in which antibodies are directed towards receptors at the NMJ. In 85% of patients, IgG antibodies against the postsynaptic acetylcholine receptor (AChR) are found (seropositive MG). The thymus gland appears to be involved in the production of these which cause an increase rate of degradation of AChR result

Myasthenia gravis is a disorder manifest by fluctuating neurological symptoms, most commonly occurring in younger women or older men. Ocular manifestations, including ptosis and double vision, are particularly frequent. However, bulbar symptoms are also common, and weakness of the extremities may occur. Respiratory impairment may be life-threatening. MG most often results from a loss of functional acetylcholine receptors (AChR) on the postsynaptic membrane of the neuromuscular junction caused by the presence of antibodies to the AChR. The serological demonstration of these antibodies most frequently establishes the diagnosis. Occasional patients, particularly with atypical presentations, are negative for anti-AChR antibodies but demonstrate the presence of anti-muscle specific receptor tyrosine kinase (MuSK) antibodies or lipoprotein receptor-related protein 4 (LRP4). Demonstration of a decremental response of greater than 10% to repetitive nerve stimulation (RNS) is strong evidence for the diagnosis of MG, but this finding is usually absent in patients with purely ocular myasthenia. Management of patients includes symptomatic treatment with acetylcholine esterase inhibitors and immunotherapy including corticosteroids, plasma exchange, or intravenous immunoglobulin, and immunosuppressive agents. A recent randomized, controlled trial has demonstrated the benefit of trans-sternal thymectomy in appropriate patients.

Introduction: Rapsyn mutations are found in Congenital Myasthenic Syndromes (CMS), usually described with early onset, hypotonia and respiratory insufficiency. Late onset phenotypes had already been described, with mild limb weakness and semiptosis. Episodic respiratory symptons and lack of ophthalmoparesis are considered hallmarks of rapsyn – CMS. The aim is to describe an unusual phenotype of a commom mutation of Rapsyn CMS and therapeutic response with salbutamol. Case report: A 29-year-old female patient was referred complaining of diplopia and fatigable assymmetrical semiptosis during the