Conditions and Symptoms

The diagnosis of a neuromuscular disorder affects the entire family. Whether your child is newly diagnosed, or your family has been living with the diagnosis for years, Nationwide Children's offers the best, most advanced care for the patient and support for the family.

Read below for a comprehensive list of conditions that we treat and common symptoms of these conditions. You also can meet our Neuromuscular Physician Team or learn more about our Neuromuscular Disorders Clinic.

Diseases of the Neuromuscular Junction Symptoms
Congenital myasthenia gravis syndrome Double vision, droopy eyelids, swallowing problems, chewing problems, muscle weakness of arms and/or legs
Myasthenia gravis
Lambert-Eaton syndrome
Diseases of Peripheral Nerve/Neuropathy Symptoms
Brachial plexopathy - also known as Parsonage Turner syndrome Pain in shoulder and weakness of arms
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
Pain, weakness, numbness of arms and legs
Metabolic Diseases of Muscle Symptoms
Acid maltase deficiency Muscle weakness, dark-colored urine myoglobinuria, elevated CK or CPK, muscle fatigue, muscle cramps
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 Symptoms
Amyotrophic lateral sclerosis (ALS) – also known as Lou Gehrig’s disease Muscle Weakness
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 Symptoms
Duchenne muscular dystrophy (DMD) Muscle weakness, delayed development, muscle fatigue
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 Symptoms
Central core disease Skin rash, muscle weakness, swallowing problems, numbness and tingling, foot pain, delayed development, muscle pain
Congenital fiber type disproportion
Congenital myopathy
Dermatomyositis - inflammatory
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