Neuromuscular Disorders - Pediatric

• Diseases affecting the neuromuscular junction
• Diseases affecting the peripheral nerve
• Metabolic diseases of muscle
• Motor neuron diseases
• Muscular dystrophies
• Myopathies

• Delayed development
• Difficulty sitting, standing or walking
• Difficulty swallowing or breathing due to muscle weakness
• Hypotonia, or “floppiness” (diminished muscle tone) 
• Joint problems
• Lack or loss of balance and coordination
• Severe muscle weakness evident from birth

Children with certain disorders may not show any symptoms at all, or symptoms may take years to develop despite the condition being present from birth

As neuromuscular disorders are typically congenital and genetic, prevention does not play a role. However, you can work with your child’s doctor to find appropriate treatment that may prevent progression of the condition.

• Genetic mutations
• Family history

• Medical history and symptom review. The provider will review your child’s personal medical history, as well as all symptoms that brought you into his or her office.
• Physical examination. The provider will examine your child, including surveying his or her muscle tone and development.
• Blood tests. Some conditions may be identified through blood testing that looks for genetic mutations.
• Biopsies. Your provider may order biopsies — small slices of tissue — to analyze your child’s muscle tissue or nerves.
• Electromyography. To diagnose some conditions, such as muscular dystrophy, your provider will insert an electrode needle into the muscle to test electrical activity as the muscle tightens and relaxes.
• Heart and lung function testing. Reduced function of the heart and lungs can be a secondary condition to some neuromuscular disorders, so your provider may order tests to examine how well your child’s heart and lungs are working.

Treatments vary based on each unique condition, but common treatments include:

• Assistive devices. Your child may use mobility aids, assistive technology or breathing devices.
• Medication. Medicine can slow the loss of muscle function in some conditions, including muscular dystrophy. Corticosteroids can also aid muscle strength.
• Physical and occupational therapy. Day-to-day self care and mobility can be improved through regular physical and occupational therapy sessions.
• Surgical procedures. In some cases, curving of the spine could make breathing more difficult. In that case, your child’s provider may recommend surgery.

• As neuromuscular disorders are often progressive and lifelong conditions, your child will see his or her provider consistently to monitor the condition and adjust treatment as needed.
• Ongoing therapy can improve your child’s quality of life,and will adjust to suit his or her needs at various life stages.