Neuromuscular Disorder
ABOUT THIS CONDITION
Neuromuscular disorders (NMDs) are a broad group of conditions that affect motor neurons, peripheral nerves, neuromuscular junction, and the muscles themselves. More than 150 distinct NMDs have been identified, collectively affecting an estimated 15 million children and adults worldwide. These conditions can be hereditary (genetic) or acquired, and they vary widely in severity, age of onset, and progression.
Early diagnosis of NMDs, both hereditary and acquired conditions, is critically important and often life changing. Timely identification allows for earlier access to treatments and intervention that may help to improve weakness and slow disease progression, prevent permanent muscle damage, and improve motor function, general health and ultimately quality of life and survival. For some conditions, early intervention at the pre-symptomatic stage can prevent disease-onset. Early diagnosis also empowers families to make informed decisions and engage multidisciplinary care teams who can help manage symptoms and support day‑to‑day wellbeing.
Hereditary NMDs are a diverse group of genetic conditions affecting motor units — muscle, peripheral nerves, motor neurons, or the neuromuscular junction. These disorders cause progressive weakness, muscle atrophy, and sometimes respiratory impairment, cardiac dysfunction, and musculoskeletal complications. They often requiring genetic testing for diagnosis. Examples of hereditary NMDs are Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), congenital myopathy, myotonic Dystrophy (DM1, DM2), hereditary peripheral neuropathies, congenital myasthenic syndrome.
Acquired NMDs are conditions affecting motor neuron, peripheral nerve, neuromuscular junction and muscle, which usually develop later in life due to external factors like immune dysfunction, infections, injury, or critical illness, and can have sudden or subacute onset. They cause muscle weakness, fatigue, paralysis, and numbness, and are often diagnosed through blood tests, electrophysiology, muscle biopsy and respond to immunomodulating therapies.
OUR APPROACH
Our Chapter brings together a multidisciplinary team of adult and paediatric neurologists, pathologists, geneticists, respirologists, cardiologists, endocrinologists, orthopaedic surgeons, paediatricians, physicians and surgeons, and allied health professionals including physiotherapists, occupational therapists, speech therapists, and genetic counsellors and psychologists. We work together to identify local service gaps for NMDs and to provide comprehensive diagnostic and clinical treatments tailored to individual patients’ needs.
INTEGRATING CARE AND RESEARCH
Our Chapter integrates clinical care with research to drive continuous improvement in diagnosis, to advance treatments and standard of care, and long‑term outcomes for people with neuromuscular disorders. We conduct and participate in territory‑wide clinical trials, clinical research studies and basic research that investigate the causes of NMDs in both children and adults and identify novel therapeutic interventions.
Our Chapter is also committed in advancing precision medicine for NMDs through multidisciplinary, translational work in collaboration with partners across Hong Kong, mainland China, the Asia–Pacific region, Europe and North America. Our work spans across:
• Genetic diagnostics
• Deep phenotyping
• Stem cells and tissue engineering for disease modelling
• AI applications in the advancement of NMD diagnosis and care
OUR TEAM
Chapter Lead
Professor Sophelia HS Chan
Clinical Associate Professor, Department of Paediatrics & Adolescent Medicine, School of Clinical Medicine, HKUMed
Honorary Consultant, Paediatric Neurology Team, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital; Department of Paediatrics and Adolescent Medicine, Hong Kong Children’s Hospital
Key member
Dr Yuan Gao
Associate Consultant, Division of Neurology, Department of Medicine, Queen Mary Hospital, Hong Kong
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Honorary Clinical Assistant Professor, Department of Medicine, School of Clinical Medicine, HKUMed
Clinical Neuroscience Consortium