Mayo Clinic doctors trained in nervous system conditions (neurologists) and other specialties diagnose congenital myasthenic syndromes.
Congenital myasthenic syndromes may be difficult to diagnose. Symptoms vary and may be similar to those of myasthenia gravis and other conditions. Doctors at Mayo Clinic have experience diagnosing congenital myasthenic syndromes.
To diagnose congenital myasthenic syndromes, your doctor will review your medical history and your family medical history. Your doctor will perform a thorough physical and neurological examination and review your symptoms, including signs of muscle weakness with repeated activity. Your doctor and other specialists also may conduct several tests to diagnose congenital myasthenic syndromes and rule out other conditions.
Tests may include: