Neuromuscular Disorders
Patients benefit from coordinated care from specialists, all with expertise in pediatric neuromuscular disorders.
What Are Neuromuscular Disorders?
Groundbreaking. Multidisciplinary. Comprehensive. These words don’t just describe our world-class Neuromuscular Disorders program. They are fundamental to our work and the commitment we make to the families who come to us from across the country. Patients benefit from coordinated care from specialists, all with expertise in pediatric neuromuscular disorders.
Coordinated Care with Pediatric Specialists From:
- Cardiology
- Developmental medicine
- Endocrinology
- Gastroenterology
- Hospice and palliative care
- Nephrology
- Neurology
- Nutrition
- Occupational therapy
- Orthopedics
- Physical medicine and rehabilitation
- Physical therapy
- Pulmonary medicine
- Social services
State-Of-The-Art Diagnostic Services Include:
- Electromyogram (EMG) and nerve conduction testing
- Genetic counseling and genetic testing
- Muscle biopsy
- Nerve biopsy
- Neuromuscular laboratory service
Symptoms of Neuromuscular Diseases
Disease | Symptoms |
---|---|
Diseases of the Neuromuscular Junction: | Double vision, droopy eyelids, swallowing problems, chewing problems, muscle weakness of arms and/or legs |
Congenital myasthenia gravis syndrome | |
Myasthenia gravis | |
Lambert-Eaton syndrome |
|
Diseases of Peripheral Nerve/Neuropathy: |
Pain in shoulder and weakness of arms |
Brachial plexopathy - also known as Parsonage Turner syndrome |
|
Charcot Marie Tooth (CMT) and other hereditary neuropathies |
Neuropathy with high arch feet and hammer toes, weakness of legs and hands, numbness of feet, painful feet; may be family history |
Chronic inflammatory demyelinating polyneuropathy (CIDP) |
Weakness and numbness of arms and legs |
Guillain-Barre syndrome |
Acute onset of weakness or sensory symptoms |
Friedreich’s ataxia |
Difficulty walking |
Vasculitis |
Pain, weakness, numbness of arms and legs |
Metabolic Diseases of Muscle: |
Muscle weakness, dark-colored urine myoglobinuria, elevated CK or CPK, muscle fatigue, muscle cramps |
Acid maltase deficiency |
|
Carnitine deficiency |
|
Carnitine palmityl transferase deficiency |
|
Cytochrome oxidase deficiency |
|
Debrancher enzyme deficiency |
|
Lactate dehydrogenase deficiency |
|
Mitochondrial myopathy |
|
Myoadenylate deaminase deficiency |
|
Phosphofructokinase deficiency |
|
Phosphoglycerate kinase deficiency |
|
Motor Neuron Diseases: |
Muscle weakness |
Amyotrophic lateral sclerosis (ALS) – also known as Lou Gehrig’s disease |
|
Spinal bulbar muscular atrophy (SBMA) – also known as Kennedy’s disease and X-linked SBMA |
|
Spinal muscular atrophy (SMA) – adult, infantile progressive, intermediate and juvenile (Juvenile is also known as SMA Type 3, Kugelberg-Welander and “floppy baby”) |
|
Muscular Dystrophies: |
Muscle weakness, delayed development, muscle fatigue |
Duchenne muscular dystrophy (DMD) |
|
Becker muscular dystrophy (BMD) |
|
Limb-Girdle muscular dystrophy (LGMD) |
|
Myotonic dystrophy |
|
Congenital muscular dystrophy |
|
Distal muscular dystrophy |
|
Emery-Dreifuss muscular dystrophy |
|
Facioscapulohumeral muscular dystrophy (FSH) |
|
Oculopharyngeal muscular dystrophy |
|
Myopathies: |
Skin rash, muscle weakness, swallowing problems, numbness and tingling, foot pain, delayed development, muscle pain |
Central core disease |
|
Congenital fiber type disproportion |
|
Congenital myopathy |
|
Dermatomyositis - inflammatory |
|
Fibromylagia |
|
Hyperthyroid myopathy – due to endocrine abnormalities |
|
Inclusion body myositis - (IBM) – inflammatory |
|
Multi-minicore disease |
|
Myotonia congenita |
|
Myotubular myopathy |
|
Nemaline myopathy |
|
Paramyotonia congenita |
|
Periodic paralysis |
|
Polymyositis - inflammatory |
Clinics Related to Neuromuscular Disorders
Neuromuscular Disorders Clinic
- Adult and pediatric patients come for the specialized care in our Neuromuscular Disorders Clinic
- Our Muscular Dystrophy Clinic is nationally recognized for leading research and clinical care for patients with any of the muscular dystrophy types
Spinal Muscular Atrophy (SMA) Clinic
- A joint program between Nationwide Children’s Hospital and The Ohio State University Wexner Medical Center, providing comprehensive, multidisciplinary care for patients from across the United States
Neuromuscular Disorders Research
Neuromuscular Disorders research is led by Dr. Jerry Mendell, a distinguished muscular dystrophy researcher and Director of the Center for Gene Therapy at The Research Institute. Learn more about Dr. Mendell and his team's neuromuscular research.
Additional Resources
Global Patient Services
(614) 355-9865
Ronald McDonald House
(614) 227-3700
Muscular Dystrophy Podcast
"This Month in Muscular Dystrophy" (our monthly podcast hosted by Dr. Kevin Flanigan)