Congenital Myasthenia Gravis
Congenital Myasthenia Gravis is a rare hereditary neuromuscular disorder causing muscle weakness due to impaired nerve-muscle communication.
Detailed Description
This condition is caused by a genetic defect affecting acetylcholine receptors at the neuromuscular junction, leading to episodic or progressive muscle weakness. It is distinct from the acquired autoimmune form and is present from birth.
Common Symptoms
- Generalized muscle weakness
- Exercise intolerance
- Megaesophagus (regurgitation)
Management Options
- Supportive care
- Feeding modifications for megaesophagus
- Cholinesterase inhibitors (limited efficacy in congenital form)
Frequently Asked Questions
Is congenital myasthenia gravis treatable?
Management is possible, but prognosis is often poor.
How is it inherited?
Autosomal recessive; both parents must be carriers.
What are the first signs?
Weakness and difficulty standing or walking in puppies.
Can it be prevented?
Through responsible breeding and genetic counseling.
Is it the same as acquired myasthenia gravis?
No, the congenital form is present from birth and not immune-mediated.
Condition Details
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Typical Age of Onset
6–12 weeks
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Testing Available
No
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Diagnosing Methods
Tensilon (edrophonium) test; Electromyography; Acetylcholine receptor antibody titers (to rule out acquired form)
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Preventative Measures
Genetic counseling and avoiding breeding affected lines
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Related Conditions
Acquired myasthenia gravis, Polymyositis