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Congenital Myasthenic Syndromes

 Syn. Congenital Myasthenic Syndrome , Congenital Myasthenias

Signs & Symptoms

 Muscle weakness
Ref: Harrison [ 3232]
Fluctuating skeletal muscle weakness
Note: Immunological attack directed at proteins in the postsynaptic membrane of the neuromuscular junction
Ref: Uptodate [ Clinical manifestations of myasthenia gravis]
Ophthalmoplegia
Ref: Uptodate [ Neuromuscular junction disorders in newborns and infants]
Fatigability of muscles
Ref: Harrison [ 3232]

Physical Examination

 Muscle weakness
Ref: Harrison [ 3232]
Respiratory failure
Note: due to Respiratory muscle involvement
Ref: Uptodate [ Clinical manifestations of myasthenia gravis]
Periorbital edema (negative symptom)
Note: Raise the possibility of Thyroid ophthalmopathy
Ref: Uptodate [ Ocular myasthenia gravis]

Lab / Serology

 Positive anti-AChR antibodies
Note: But a negative test does not exclude the disease
Ref: Harrison [ 3233]
Positive AChR-Ab
Ref: Uptodate [ Diagnosis of myasthenia gravis]
Positive MuSK-Ab
Ref: Uptodate [ Diagnosis of myasthenia gravis]

Imagin Study

 Enlarged extraocular muscles (negative symptom)
Note: Raise the possibility of Thyroid ophthalmopathy
Ref: Uptodate [ Ocular myasthenia gravis]
Positive Single-fiber electromyography
Ref: Uptodate [ Diagnosis of myasthenia gravis]
Thymic hyperplasia
Ref: Uptodate [ Diagnosis of myasthenia gravis]

Complication

 Arthrogryposis
Ref: Uptodate [ Neuromuscular junction disorders in newborns and infants]
Aspiration
Note: due to Oropharyngeal muscle weakness
Ref: Uptodate [ Clinical manifestations of myasthenia gravis]

Risk Factors

 Female
Ref: Harrison [ 3232]
Age between 20 and 40
Ref: Uptodate [ Clinical manifestations of myasthenia gravis]
Age between 60 and 90
Ref: Uptodate [ Clinical manifestations of myasthenia gravis]

Cause

Other