Pediatric Neuromuscular Disorders

There are many different types of neuromuscular disorders including:

Congenital muscular dystrophy

Congenital muscular dystrophy is a group genetic disorder that causes muscles to get weaker and weaker over time.

Congenital myopathies

Congenital myopathies are genetic diseases that cause muscle weakness that can be mild to severe.

Friedreich’s ataxia

This condition causes problems with the nervous system and movement.

Limb-girdle muscular dystrophies

Limb-girdle muscular dystrophies are rare disorders with muscle-wasting (weakening, shirking and loss of muscles) in the hips and shoulders.

Myotonic dystrophy

This type of muscular dystrophy begins in adulthood and can be seen as a congenital, childhood or adult form.

Neuromuscular junction disorders

Neuromuscular junction disorders affect the area where nerves connect to muscles. Myasthenia gravis, botulism and congenital myasthenic syndrome are neuromuscular junction disorders.

Neuropathies

Neuropathies are problems with the nerves that can cause numbness, tingling, pain and other symptoms. Acquired neuropathies include Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy, diabetic neuropathy and toxic neuropathies. Hereditary neuropathies include Charcot-Marie-Tooth disease (CMT).

Spinal muscular atrophy

This condition makes it hard for a child to control their muscle movement. The main problem is in the motor nerve cells located in the spine.

Signs and symptoms are different for different types of neuromuscular conditions, but they often include:

• Muscle weakness in the arms and legs
• Loss of reflexes
• Twitching, cramps, numbness or aches and pains
• Decreased muscle size and lack of muscle tone
• Decreased sensation (tingling, numbness)
• Problems with movement, loss of balance and the ability to walk
• Droopy eyelids
• Double vision
• Trouble swallowing
• Trouble breathing

Doctors typically start by getting a medical history and conducting a physical exam to evaluate your child’s reflexes and muscle strength. Other tests to evaluate your child may include:

• A blood test to check for high levels of muscle enzymes
• Nerve conduction studies to test the ability of nerves to conduct electricity to muscles
• An electromyography (EMG) to examine the health of a muscle. During an EMG, a small needle is inserted in the muscle.
• A nerve conduction study (NCS). During an NCS, electrodes are placed on the surface of your child’s skin to measure the speed and strength of nerve pulses traveling through the body. These signals are translated into graphs, sounds or numerical values that are then interpreted by one of our specialists.
• Genetic testing to confirm gene mutations
• A muscle or nerve biopsy in which a clinician makes a small incision and removes tissue to examine under a microscope
• Magnetic resonance imaging (MRI) of the brain and spinal cord
• A spinal tap to check cerebrospinal fluid

Based on the specific condition that your child has, we make a treatment plan so that they can see all the specialists they need. We also coordinate the care, including for:

• Multidisciplinary care, that includes a neurologist and other specialists such as a cardiologist and pulmonologist
• Physical therapy, to help them work on strength and flexibility
• Occupational therapy, to help with doing daily activities
• Speech therapy, to work on language and feeding
• Nutritional assessments
• Social work support
• Case manager support
• Medications