Neuromuscular Disorders Exome

Neuromuscular disorders (NMD) are a clinically and genetically diverse group of conditions affecting the peripheral nervous system and muscle. They are primarily characterized by progressive muscle degeneration and wasting, progressive muscle weakness, and in some cases elevated serum creatine kinase levels. Most NMDs have an underlying genetic basis, although there are also acquired forms NMD such as botulism and pharmaceutical induced myopathies. Onset of symptoms is variable between different NMD, and can range from prenatal onset to childhood or adult onset conditions. It is becoming increasingly recognized that many genes associated with NMD can lead to multiple disease phenotypes in different families, and some can be associated with both autosomal dominant and recessive inheritance. Our neuromuscular targeted exome includes genes associated with a wide range of neuromuscular related disorders including limb girdle muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, myotonias, congenital myasthenic syndrome, and distal arthrogryposis. Determining the molecular basis can improve clinical management, provides appropriate genetic counseling, and guide treatment. The neuromuscular exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with neuromuscular related disorders.Neuromuscular disorders (NMD) are a clinically and genetically diverse group of conditions affecting the peripheral nervous system and muscle. They are primarily characterized by progressive muscle degeneration and wasting, progressive muscle weakness, and in some cases elevated serum creatine kinase levels. Most NMDs have an underlying genetic basis, although there are also acquired forms NMD such as botulism and pharmaceutical induced myopathies. Onset of symptoms is variable between different NMD, and can range from prenatal onset to childhood or adult onset conditions. It is becoming increasingly recognized that many genes associated with NMD can lead to multiple disease phenotypes in different families, and some can be associated with both autosomal dominant and recessive inheritance. Our neuromuscular targeted exome includes genes associated with a wide range of neuromuscular related disorders including limb girdle muscular dystrophies, congenital muscular dystrophies, congenital myopathies, distal myopathies, myotonias, congenital myasthenic syndrome, and distal arthrogryposis. Determining the molecular basis can improve clinical management, provides appropriate genetic counseling, and guide treatment. The neuromuscular exome involves analysis of exome sequencing data in a predefined yet regularly updated set of genes associated with neuromuscular related disorders.