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:

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

Muscular Dystrophy 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 

Welcome Center Services
1-800-792-8401 (ext. 59866)

Ronald McDonald House
(614) 227-3700

Muscular Dystrophy Podcast
"This Month in Muscular Dystrophy" (our monthly podcast hosted by Dr. Kevin Flanigan)