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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Overview of Neuromuscular Conditions in Children

Diseases of the Neuromuscular Junction:

Symptoms:

Diseases of Peripheral Nerve/Neuropathy:

Symptoms:

Metabolic Diseases of Muscle:

Symptoms:

Motor Neuron Diseases:

Symptoms:

Muscular Dystrophies:

Symptoms:

Myopathies:

Symptoms: