Neuromuscular disorders comprise a broad range of diseases affecting nerves and muscles, characterised by progressive muscle weakness.
Common neuromuscular disorders include Duchenne and Becker Muscular Dystrophy, Spinal Muscular Atrophy, Charcot-Marie-Tooth and Myasthenia Gravis. While many neuromuscular disorders are hereditary, some, like Myasthenia Gravis, are not.
New genetic treatments that have emerged in the past few years, making certain conditions treatable. For example, if gene-modifying treatment is introduced to babies with Spinal Muscular Atrophy before they develop muscle weakness, they can have normal or near-normal motor development. For other conditions where treatments are still under research, the focus of treatment is on symptom management, enhancing mobility and prolonging life.
With the emergence of new therapies, it is important to get an early and accurate diagnosis for neuromuscular disorders. Diagnosis is based on detailed history, physical examination and subsequent tests such as blood tests for muscle enzymes and genetic testing. Additionally, organ system assessments, such as like heart or lung tests, are part of our approach to maintaining good health throughout the child’s lifespan.
