Neuromuscular Disorders

Neuromuscular disorders are a broad group of conditions that affect the nerves controlling voluntary muscles and the muscles themselves. These disorders can cause progressive muscle weakness, affecting a child’s ability to move, breathe, and perform daily activities. Early diagnosis and multidisciplinary care are essential for improving quality of life.

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Common Neuromuscular Disorders in Children

• Duchenne & Becker Muscular Dystrophy – Progressive muscle weakness due to genetic mutations
• Spinal Muscular Atrophy (SMA) – Loss of motor neurons causing muscle weakness
• Charcot-Marie-Tooth Disease – Inherited peripheral nerve disorder
• Myasthenia Gravis – Autoimmune disorder affecting nerve-muscle communication
• Congenital Myopathies – Muscle disorders present from birth
• Guillain-Barré Syndrome – Acute inflammatory nerve disorder
• Peripheral Neuropathies – Damage to peripheral nerves

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Signs & Symptoms

• Progressive muscle weakness or wasting
• Delayed motor milestones (sitting, standing, walking)
• Difficulty climbing stairs, running, or rising from the floor
• Frequent falls or clumsiness
• Breathing difficulties or reduced exercise tolerance
• Drooping eyelids or facial weakness
• Muscle cramps or pain

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Causes

• Genetic mutations (inherited or de novo)
• Autoimmune processes
• Metabolic or mitochondrial dysfunction
• Infections or post-infectious inflammation
• Toxic or nutritional causes

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Diagnosis

• Detailed clinical and family history
• Neurological and muscle examination
• Electromyography (EMG) and nerve conduction studies
• Muscle biopsy when indicated
• Genetic testing and metabolic panels
• Pulmonary function tests

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Treatment & Management

• Disease-Modifying Therapies – Gene therapy and targeted treatments (e.g., for SMA, DMD)
• Immunotherapy – For autoimmune neuromuscular conditions
• Physical & Occupational Therapy – To maintain strength and function
• Respiratory Support – Ventilatory assistance for breathing difficulties
• Nutritional Management – Dietary support for swallowing and growth
• Orthotic Devices & Mobility Aids – To support independence
• Multidisciplinary Team Care – Coordinated approach with neurology, pulmonology, and rehabilitation

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Our Approach

We provide comprehensive, compassionate care for children with neuromuscular disorders. Our multidisciplinary team ensures each child receives the most current, evidence-based treatments alongside strong family support and long-term follow-up.

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Book a Consultation

Early diagnosis opens the door to life-changing treatments. Contact us today to schedule a specialist evaluation for your child.