Neuromuscular Conditions and Symptoms :: Nationwide Children's Hospital

Neuromuscular Symptoms and Conditions

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

  • Myasthenia gravis

  • Lambert-Eaton syndrome

Double vision, droopy eyelids, swallowing problems, chewing problems, muscle weakness of arms and/or legs

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

  • Vasculitis

Pain, weakness, numbness of arms and legs

Metabolic Diseases of Muscle:

Symptoms:

  • 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

Muscle weakness, dark-colored urine myoglobinuria, elevated CK or CPK, muscle fatigue, muscle cramps

Motor Neuron Diseases:

Symptoms:

  • 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”)

Muscle weakness

Muscular Dystrophies:

Symptoms:

  • 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

Muscle weakness, delayed development, muscle fatigue

Myopathies:

Symptoms:

  • 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

Skin rash, muscle weakness, swallowing problems, numbness and tingling, foot pain, delayed development, muscle pain

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