Muscle Weakness and Fatigue

Pediatric neuromuscular disorders affect the nerves that control the muscles for voluntary movements and the nerves that communicate with the brain. Healthy nerve cells, called neurons, transmit electrical signals that help control the body's ability to move. When those neurons don't work correctly, communication between the muscles and nervous system is reduced. When this happens, it causes muscle atrophy, where the muscles waste away and weaken.

Pediatric neuromuscular disorders include:

• Arthrogryposis: causes stiffness and reduced mobility in more than one joint
• Cerebral palsy: a group of disorders that affect the ability to maintain balance and movement
• Muscular dystrophy: an inherited, progressive condition that leads to muscle weakness and loss that often worsens over time
• Myelomeningocele: a type of spina bifida that prevents the spinal canal and backbone from closing before birth
• Rett syndrome: a rare, genetic disease that mostly affects girls and causes developmental and nervous system issues
• Spinal muscle atrophy: a genetic disease that attacks neurons in the spinal cord and weakens the muscles that control crawling, breathing and walking
• Charcot-Marie Tooth Disease (CMT), Chronic Inflammatory Demyelinating Polyneuropathy (CIDP), Congenital Myopathy, Guillain-Barre Syndrome (GBS), Myasthenia Gravis, Myotonic Dystrophy, Congenital Myasthenic Syndrome, Congenital muscular dystrophy, Friedreich’s ataxia, mitochondrial myopathies, metabolic myopathies.

Pediatric neuromuscular conditions can be inherited or caused by a spontaneous gene mutation or an imbalance in a child’s immune system.

Symptoms, Diagnosis and Outlook

The symptoms of pediatric neuromuscular disorders vary according to the type of disorder and the areas it affects. Some signs of pediatric neuromuscular conditions may begin in infancy. Others may not appear until childhood or adolescence.

Common symptoms of pediatric neuromuscular disorders include:

• Balance problems
• Delayed milestones that involve movement, such as crawling, walking or abnormal gait
• Involuntary muscle rippling or twitching
• Muscle weakness or atrophy
• Numbness or tingling
• Poor muscle tone

Diagnosing pediatric neuromuscular disorders typically begins with a physical examination that evaluates your child’s muscle strength and reflexes.

Additional testing may include:

• Blood tests
• Electromyogram (EMG) nerve conduction studies
• Imaging tests, such as computed tomography (CT), positron emission tomography (PET) or magnetic resonance imaging (MRI) scans
• Muscle biopsy
• Lumbar puncture (LP), also called a spinal tap
• Ultrasound

There is currently no cure for pediatric neuromuscular disorders. Treatment focuses on delaying the progression of the disease and maintaining your child’s quality of life. Children who are encouraged to develop coping skills and experience a supportive atmosphere from family and friends can lead independent, productive lives.

Why Choose Penn State Health Children’s Hospital for Care

Ranked Among the Nation’s Best

Penn State Health Children's Hospital is proud to be one of the nation's top children's hospitals.

• Our family-friendly atmosphere focuses on making all children comfortable and at ease while receiving the care they need.
• U.S. News and World Report has repeatedly ranked us as one of the best children’s hospitals. This includes top rankings in neonatology, pediatric cardiology, pediatric nephrology, pediatric pulmonology and lung surgery. We are one of only 84 children's hospitals recognized in any specialty.
• We are one of eight hospitals in the country, and the only one in Pennsylvania, named a Level 1 Children’s Surgery Center by the American College of Surgeons (ACS) for excellence in pediatric surgical care.

You can see a complete list of our recognitions here

Advanced care through research

We participate in research trials. This research helps advance knowledge about complex condition and tests promising therapies.

Comprehensive Care from Skilled Clinicians

The team of experts at Penn State Health Children's Hospital specializes in treating children and adolescents with musculoskeletal disorders. Timely, accurate diagnosis is a priority for our pediatric neurologists. Treatment is managed by pediatric orthopaedic surgeons with special training and expertise caring for pediatric limb and spine issues.

To ensure children get the care they need, our orthopaedic surgeons participate in several multidisciplinary clinics, including:

• Spina bifida clinic
• Muscular dystrophy clinic
• Neurofibromatosis clinic

Support Groups

Support groups provide children and their families an opportunity to connect with others in similar situations. Learn more about the support groups offered at Penn State Health Children’s Hospital.

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