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Overview of Neuromuscular Conditions in Children

Neuromuscular Symptoms and Conditions

The diagnosis of a neuromuscular disorder affects the entire family. Read below for a comprehensive list of conditions and common symptoms of these conditions.  For more information on possible treatment by our staff please click here.

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
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