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Diseases of the Neuromuscular Junction

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Diseases of the Neuromuscular Junction
Myasthenia Gravis
Lambert-Eeaton Syndrome
Congenital Myasthenic Syndrome

 

 

  Myasthenia Gravis

Usual Age of Onset
Childhood to adulthood

Disease Characteristics
Weakness and fatigability of the eyes, face, neck,
throat, limbs, and /or trunk muscles.
Weakness may fluctuate.

Disease progression varies. Drug therapy and/or
removal of thymus gland often effective.

Inheritance
There appears to be a genetic predisposition
to autoimmune diseases.

the cause is unclear; researchers suspect viruses
or bacteria might trigger the autoimmune response;
the thymus gland also seems sometimes to play a
role in the disease.

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Lambert-Eeaton Syndrome

Usual Age of Onset
Adulthood

Disease Characteristics
Weakness and fatigue of hip and leg muscles
with aching back and thigh muscles common.
Lung tumor is often present.

Progression varies with success of drug therapy
and treatment of any malignancy.

Inheritance
There appears to be a genetic predisposition to
autoimmune diseases.

The cause is unclear; researchers suspect viruses
or bacteria might trigger the autoimmune response.

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Congenital Myasthenic Syndrome

Usual Age of Onset
Infancy or childhood, can be later

Disease Characteristics
Generalized weakness and fatigability of voluntary
muscles, including those controlling eye movement,
swallowing, and breathing.

Varies in severity, and weakness can fluctuate.

Inheritance
Autosomal dominant, meaning it can be inherited
through either parent; or autosomal recessive,
when a faulty gene is inherited from each parent.

Defects in genes that are necessary to make various
proteins of the neuromuscular junction causes
congenital myasthenic syndrome.

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Neuromuscular Diseases included in MDA's Programs
Muscular Dystrophies
Motor Neuron Diseases
Inflammatory Myopathies
Diseases of Neuromuscular Junction
Diseases of Peripheral Nerves
Metabolic Diseases of Muscle
Myopathies Due to Endocrine Abnormalities
Other Myopathies

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