Pediatric Neuromuscular Disorders

What Are the Types of Neuromuscular Disorders in Children?

Many types of neuromuscular disorders can affect children. The various conditions fall into subgroups.

Muscular Dystrophy (MD) 

Muscular dystrophies include more than 30 genetic disorders that cause progressive muscle weakness and loss of mobility. Types of muscular dystrophies include:

• Becker muscular dystrophy (BMD)
• Congenital muscular dystrophies, including rigid spine syndromes
• Duchenne muscular dystrophy (DMD)
• Facioscapulohumeral muscular dystrophy (FSHD)
• Limb-girdle muscular dystrophy (LGMD)
• Myotonic dystrophy (DM)

Ion Channel Diseases

A defect in proteins called ion channels causes muscle weakness, poor muscle tone and muscle paralysis. Ion channel diseases include:

• Hyperkalemic periodic paralysis
• Hypokalemic periodic paralysis
• Myotonia congenita, including Becker myotonia and Thomsen myotonia 

Myopathies

Myopathies affect skeletal muscle tissue. They cause muscle weakness that affects how well your child moves. Myopathy types include:

• Congenital myopathies
• Distal myopathies
• Endocrine myopathies
• Juvenile inflammatory myopathy
• Metabolic myopathies
• Myofibrillar myopathies
• Mitochondrial myopathies (Mitochondrial DNA depletion syndrome)

Neuromuscular Junction Diseases

Neuromuscular junction diseases affect how nerves and muscles communicate. This leads to muscle weakness and difficulty swallowing and breathing. Types include:

• Congenital myasthenic syndromes (CMS)
• Lambert-Eaton myasthenic syndrome (LEMS)
• Myasthenia gravis

Peripheral Neuropathies

Peripheral neuropathy occurs from damage to peripheral nerves that aid movements, sensations, heart rate, breathing and blood pressure. Peripheral neuropathy can cause tingling, numbness or burning sensations, as well as muscle weakness. Types of peripheral neuropathies include: 

• Charcot-Marie-Tooth disease (CMT)
• Chronic inflammatory demyelinating polyneuropathy (CIDP)

Other Neuromuscular Disorders

Other types of neuromuscular disorders we treat include:

• Friedreich’s ataxia and other mitochondrial diseases
• Spinal muscular atrophy (SMA) and other motor neuron diseases

What Causes Neuromuscular Disorders in Children?

Many neuromuscular disorders are genetic, which means a gene change (mutation) causes the condition. A child may inherit this changed gene from a parent, or the change may occur spontaneously for no known reason.

Some neuromuscular disorders are “acquired.” This means inflammation in the body or exposure to a toxin causes the condition. In other cases, the cause remains unknown.

What Are the Signs and Symptoms of Pediatric Neuromuscular Disorders? 

Signs of neuromuscular disorders in children depend on the specific condition. In general, neuromuscular disorders may cause:

• Balance and coordination issues
• Difficulty crawling, walking or holding up one’s head
• Drooping eyelids or facial features
• Muscle cramps, pain or muscle twitching  
• Muscle loss and weakness

As muscles get weaker, a child may struggle to:

• Breathe
• Swallow (dysphagia)
• Talk

How Are Neuromuscular Disorders in Children Diagnosed?

Pediatric neurologists diagnose and treat nerve and muscle conditions in children. Neuromuscular disorders can be challenging to diagnose because they share symptoms with other conditions. Lurie Children’s doctors perform comprehensive physical exams and neurological testing to provide an accurate diagnosis. 

Electromyography (EMG) and Nerve Conduction Study (NCS)

Neurological tests, including electromyography (EMG) and nerve conduction studies (NCS), take place in our Clinical Neurophysiology Laboratory. 

• Electromyography assesses the health and function of muscles, as well as the nerves that control them. 
• Nerve conduction studies assess the health and function of peripheral nerves. These are the ones that control voluntary movements and sensations.

Our EMG/NCS lab is among a select few pediatric labs in the country to receive accreditation with exemplary status from the American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM). This distinction reflects our ability to perform tests on children with the highest level of quality, performance and integrity. Our lab technicians and Child Life Specialists are experts at keeping kids comfortable during testing.

Other Diagnostic Tests for Neuromuscular Disorders

Your child may also get one or more of these tests:

• Blood tests to look for signs of inflammation, autoimmune diseases or enzyme changes
• Genetic tests (blood or saliva tests) to look for gene changes that cause certain neuromuscular disorders
• Imaging tests, including neuroimaging, neuromuscular ultrasounds and MRIs, to check brain, nerve and spinal cord issues
• Muscle biopsy to look for changes in muscle tissue 
• Skin biopsy to look for changes in nerve fibers in skin 
• Spinal tap (lumbar puncture) to look for signs of inflammation or infection in cerebrospinal fluid around the brain and spinal cord, which can rule out other conditions 

How Are Pediatric Neuromuscular Disorders Treated?

Treatments depend on the type of neuromuscular disorder and your child’s symptoms. Our team creates a personalized treatment plan for your child’s specific needs.

While there isn’t a cure for every pediatric neuromuscular disorder, we offer a range of therapies that can slow disease progression. Some treatments can put a chronic disease into remission, so your child has few, if any, symptoms. These therapies offer your child the best chance for a full, active life. 

Lurie Children’s offers a full array of neuromuscular disorder treatments, including: 

• Medications to slow disease progression and ease symptoms
• Neuromuscular rehabilitation services, such as physical therapy and occupational therapy, to strengthen muscles and improve mobility and range of motion
• Speech therapy to aid speech and swallowing 
• Clinical nutrition services to promote good health and growth, and help with tube feedings, if needed
• Customized orthotic treatments to aid mobility, stability and function
• Orthopedic and general surgeries to treat scoliosis, hip disorders and other issues, as well as place feeding tubes 

What Is Lurie Children’s Approach to Caring for Children With Neuromuscular Disorders?

Lurie Children’s provides an interdisciplinary approach to caring for children with neuromuscular disorders. Your child benefits from a team of specialists from different fields who work together to address your child’s unique needs. 

Our specialized services include:

• Muscular Dystrophy Association (MDA) Care Center: Our MDA Care Center brings together a team of neuromuscular experts along with the MDA’s extensive range of support services and resources. We have MDA specialty clinics for children with certain neuromuscular disorders, including our Parent Project Muscular Dystrophy (PPMD) Certified Duchenne Care Center.
• CMT Center of Excellence: We’re a medical Center of Excellence for children with Charcot-Marie-Tooth disease. This designation from the Hereditary Neuropathy Foundation (HNF) recognizes our dedication to providing the latest evidence-based care.
• Expert diagnostic testing: We offer advanced diagnostic testing as one of the few accredited pediatric EMG/NCS laboratories in the country. 
• Focus on bone health: Specialists at our Bone Health Program help optimize bone strength. This is especially important for children who aren’t mobile or weight-bearing.
• Behavioral health support: We have access to Lurie Children’s psychiatrists, psychologists, social workers and Child Life Specialists to support your child’s emotional and behavioral well-being. 
• Genetic testing and counseling: Our genetic counselors provide guidance and education to families who have a history of inherited neuromuscular disorders. 
• Research and clinical trials: Our experts are active in pediatric neuromuscular research and clinical trials. Your child may benefit from promising new therapies not widely available elsewhere.

Lurie Children’s Mazza Foundation Neuromuscular Program

At the Lurie Children’s Mazza Foundation Neuromuscular Program, our interdisciplinary team of experts provides compassionate care for children with neuromuscular disorders. Your child benefits from expert diagnosis and a personalized treatment plan to help them get the most out of life.

Learn more about our Neuromuscular Program.