Find care for your child at the Ramberg Ford Pediatric Neuromuscular Disorders Center

OHSU Doernbecher Children’s Hospital has Oregon’s only pediatric neuromuscular program. Our highly trained specialists provide expert care for children with conditions affecting nerves and muscles. At the Ramberg Ford Pediatric Neuromuscular Disorders Center, you will find: 

• First-rate providers who trained at top U.S. children's hospitals.
• A team-based approach, with experts in neuromuscular disorders who work together to care for your child.
• Access to clinical trials, breakthrough therapies and leading-edge treatment.
• Patient-centered care to support your child’s quality of life and everyday activities.  

What are pediatric neuromuscular disorders?

Neuromuscular disorders are rare, mostly genetic diseases. They cause a child’s nerves and/or muscles to not work well. This can lead to problems with walking, moving the arms and legs, breathing, and/or eating. As a result, kids may have a harder time playing or doing everyday activities.   

These conditions affect muscles, nerves, the connection between muscles and nerves, and motor neurons (nerve cells in the spinal cord).  

Who gets pediatric neuromuscular disorders?

Children of all ages get neuromuscular disorders. They are often genetic (passed along in families), but they can also be caused by other medical issues.  

Pediatric neuromuscular diseases we treat

Many neuromuscular diseases start in childhood. Our team offers personalized, compassionate care to help children manage symptoms, stay active and enjoy life through adolescence. 

Here are some of the most common conditions we treat. 

• Duchenne muscular dystrophy (DMD)
• Spinal muscular atrophy (SMA)
• Charcot-Marie-Tooth (CMT) disease
• Becker muscular dystrophy (BMD)
• Congenital muscular dystrophies (CMD)
• Congenital myasthenic syndrome (CMS)
• Congenital myopathies
• Emery-Dreifuss muscular dystrophy (EDMD)
• Friedreich's ataxia (FA)
• Giant axonal neuropathy (GAN)
• Limb-girdle muscular dystrophy (LGMD)
• Myasthenia gravis (MG)
• Myotonia congenita
• Myotonic dystrophy
• Periodic paralysis
• Pompe disease

Duchenne muscular dystrophy (DMD)

Duchenne muscular dystrophy (DMD) is a genetic disorder that prevents the body from making “dystrophin,” a protein that protects muscles from damage.

Signs and symptoms

Signs of DMD may appear in infancy, but most children show symptoms between the ages of 2 and 5. Many children with DMD use a wheelchair by age 12. Look for these signs starting in early childhood: 

• Delays in sitting, crawling, walking and climbing
• Worsening muscle weakness in hips, pelvis, thighs and shoulders
• Frequent tripping and falling  
• Waddling gait or walking on toes
• Enlarged calf muscles
• Delayed speech and learning difficulties 

What causes DMD?

Duchenne muscular dystrophy is caused by mutations in the dystrophin gene on the X chromosome. The mutation makes muscles fragile and likely to break down.  

Who gets DMD?

Most children with DMD (about 65%) inherit the mutated gene from a parent. Almost all people with DMD were assigned male at birth because the mutation is on the X chromosome.  People assigned male at birth have only one X chromosome, so if they inherit the mutated gene, they will develop the condition. People assigned female at birth may have DMD, but it is rare.  

Treatment for Duchenne muscular dystrophy

While there is no cure for DMD, treatments can slow your child’s disease and improve their quality of life.  

Our team specializes in caring for children with Duchenne muscular dystrophy. We offer treatments, therapies and support to help your child feel their best. 

• Medications and gene therapies
• Neurological and neuromuscular care
• Cardiac (heart) care
• Respiratory (breathing) care
• Physical therapy and rehabilitation
• Orthopedic surgery and support
• Pain management
• Participation in clinical trials 

Spinal muscular atrophy (SMA)

Spinal muscular atrophy is a genetic condition that affects muscle movement. In these disorders, nerve cells in the spinal cord do not function properly. This leads to nerve cell loss and muscle weakness and damage.

Signs and symptoms

Children with SMA struggle to control muscles in their shoulders, hips, back, legs arms and face. That can lead to problems with moving their arms, legs and head as well as eating, swallowing, breathing and coughing. 

What causes SMA?

Spinal muscular atrophy is caused by a mutation in the gene called survivor motor neuron 1 (SMN1). If both parents carry the mutated gene, there is a 25% chance their child will inherit and be affected by SMA.

People with one abnormal gene don’t have symptoms, but they are carriers. A child can have SMA even without a family history. 

Treatment for spinal muscular atrophy

There is no cure for SMA. Treatments and medication can help manage symptoms, improve movement and extend lives. Our experts specialize in caring for children with SMA. Services may include: 

• Medication
• Physical and occupational therapy
• Muscle stretching and strengthening
• Nutrition and feeding support
• Breathing and respiratory support
• Participation in clinical trials 

Charcot-Marie-Tooth disease (CMT)

Charcot-Marie-Tooth disease is a group of genetic disorders that affect nerve function in the arms and legs. CMT is also called hereditary motor sensory neuropathy.

Signs and symptoms

CMT is present at birth, but symptoms may not appear until children are older.  

• Weakness in the feet, legs, hands and arms
• Loss of sensation in the feet and legs
• Foot and hand deformities, including high arches  
• Tripping and trouble walking 

What causes CMT?

More than 100 different genes can cause Charcot-Marie-Tooth disease. The abnormal genes damage the insulation around nerves (myelin sheath) or the nerve fiber (axon) that carries signals from the brain to the muscles. This slows down signals from the brain and spinal cord to muscles, leading to weakness. 

Who gets CMT?

Charcot-Marie-Tooth disease can be inherited from one or both parents. A child can also have CMT without a family history.

Treatment for Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease has no cure, but treatments can help children feel better and stay active. Our team creates a personalized care plan for your child that may include:

• Physical therapy
• Occupational therapy
• Orthopedic surgery
• Pain management 

Diagnosing pediatric neuromuscular disorders

Neuromuscular disorders share many symptoms. Our specialists review your child’s medical history and do a thorough exam. We also use tests and procedures to find and measure signs of muscle weakness and nerve problems.  

• Genetic testing. Tests for genetic mutations that cause neuromuscular disorders. We can do this through blood or saliva (spit).  
• Nerve conduction studies (NCS) and Electromyography (EMG): Procedures to measure how electrical signals are traveling through nerves and muscles.  
• Nerve and muscle ultrasound: Painless imaging of nerves and muscles to look for a wide range of neuromuscular conditions.   
• Muscle biopsy. A procedure that uses a muscle sample to examine muscle function.
• Skin biopsy for epidermal nerve fiber density. A procedure that uses a skin sample to check nerve fiber function and loss.
• Echocardiogram. An ultrasound imaging procedure that looks at your heart.
• EKG. A quick, painless test to check heartbeat and electrical signals.
• Pulmonary function test (PFT). A way to measure lung health and diagnose breathing problems. 

Clinical trials for muscular dystrophy and other neuromuscular disorders

About the Ramberg Ford Pediatric Neuromuscular Disorders Center

Muscular dystrophy 

• Cure CMD (Congenital Muscular Dystrophy)
• Muscular Dystrophy Association, with information about many neuromuscular disorders 
• Parent Project Muscular Dystrophy 

Spinal muscular atrophy

• Cure SMA (Spinal Muscular Atrophy)
• Spinal Muscular Atrophy Information Page, National Institute of Neurological Disorders and Stroke 

Charcot-Marie-Tooth disease

• Charcot-Marie-Tooth Association 

Myasthenia gravis

• Myasthenia Gravis Foundation of America
• Myasthenia Gravis Information Page, National Institute of Neurological Disorders and Stroke 

Other neuromuscular disorders

• Friedreich's Ataxia Research Alliance
• Familial Periodic Paralyses Information Page, National Institute of Neurological Disorders and Stroke
• Hereditary Neuropathies Information Page, National Institute of Neurological Disorders and Stroke 

Clinical trials

• OHSU health care clinical trials
• OHSU pediatric brain and spine clinical trials and research 

Center news and funding