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 and Charcot Marie Tooth and Myasthenia Gravis. While many neuromuscular disorders are hereditary, some like Myasthenia Gravis are not.
These disorders often have hereditary origins, although some are
sporadic, occurring randomly without a hereditary basis.
Key symptoms including progressive muscle weakness, delayed motor
skills, challenges with running, climbing or jumping. Some disorders may also
cause numbness or pain.
Currently, there is no cure for most neuromuscular disorders. The focus of treatment is on symptom management, enhancing mobility and prolonging life. Diagnosis is based on detailed history, physical examination and subsequent tests such as blood tests for muscle enzymes, genetic testing, nerve conduction studies or muscle biopsy. Additionally, organ system assessments like heart or lung tests may be required for certain disorders. For example, heart screening is vital for Duchenne Muscular Dystrophy. Treatment involves a multidisciplinary team approach, encompassing various paediatric specialties, such as pulmonary, orthopaedics, gastroenterology and cardiology, as well as allied health professionals such as dietitians, physiotherapists, occupational therapists, speech therapists, geneticists and medical social workers.
NUH runs a monthly neuromuscular clinic that provides comprehensive care for children with progressive neuromuscular conditions, addressing the needs of both independent walkers and wheelchair-dependent patients.