Childhood Neuromuscular Disorders

ABSTRACT

@#Infantile and childhood neuromuscular disorders are a significant cause of motor delays in childhood. Neuromuscular disorders may present either with hypotonia and weakness in early infancy or falls and difficulties in walking later in childhood. The first goal in approaching a patient with suspected muscle disease is to ascertain the correct site of the lesion, followed by the cause of the lesion. Extraordinary breakthroughs in the area of genetic testing have resulted in a decrease in reliance on muscle biopsies and neurophysiological testing. The importance of recognising such disorders is because viable treatment options are now available for the treatment of affected children. Early recognition allows patients to receive therapy at a stage of the disease that will give the best long-term outcomes. Even in the absence of definitive treatment, supportive management and preventive care have revolutionized the care of neuromuscular disorders with longer quality life spans in a good majority of patients.