Myasthenia gravis and genetics

Introduction: Myasthenia gravis is a neuromuscular disorder manifested by weakness and fatigability ofvoluntary muscles. The clinical features were well known by the turn of the century, and little has subsequentlybeen added to the classic descriptions of the disease. Autoimmune myasthenia gravis (MG) is a multifactorialdisease, markedly influenced by genetic factors.The role of genetic factors is extremely changed in autoimmunemyasthenia gravis (MG) than in genetic myasthenic syndromes. CMS are hereditary in a simple Mendelianmeans and are produced by infrequent mutations of genes specifically articulated at the neuromuscular junction,causing its malfunction the genetic component of CMS is manifest and impinges on the management of thepatients. In contrast, genetic factors intricate in autoimmune MG have been much more indefinable and presentlyare of limited clinical effectiveness.Result: Associate at least two categories of genes in influential liability to myasthenia gravis; one located inthe district between HLA B and TNF may be immuno- regulatory, whereas the second, located in the class IIregion, may have to do with the encouraging factor (e. g., DR1 or DR7 in D-PenMG). The occurrences of HL-A1and HL-A8 were highly significantly higher in myasthenic patients than in normal Finnish controls. The increaseof HL-A1 is secondary and owing to a resilient association disequilibrium between HL-A8 and HL-Al. HL-A8seemed most often in females with onset of MYASTHENIA gravis before the age of 35 years, and inpatientswith thymus hyperplasia. No significant HL-A deviations were found in males or in females with later onset ofdisease. In seven thymoma patients the occurrence of W1O antigen was almost significantly increased.Theclinically typical form of autoimmune MG with thymus hyperplasia displays the greatest reproducible geneticlinks, particularly with the A1-B8-DR3 (8.1) haplotype of the major histocompatibility complex (MHC).

Keywords:

Myasthenia gravis genetics