congenital myasthenic syndrome 1A
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
Also known as: CHRNA1 congenital myasthenic syndrome, CMS1A, congenital myasthenic syndrome caused by mutation in CHRNA1, congenital myasthenic syndrome type 1A, Cms IIa, myasthenic syndrome, congenital, 1A, slow-channel, myasthenic syndrome, congenital, type IIa.
Category: General
Symptoms associated with congenital myasthenic syndrome 1A
The following symptoms have been associated with congenital myasthenic syndrome 1A in medical literature. Not everyone experiences the same symptoms.
Diaphragmatic weakness
A decrease in the strength of the diaphragm....
Dysphagia
Difficulty in swallowing....
Fatigable weakness
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. Tha...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Intermittent episodes of respiratory insufficiency due to muscle weakness
Information about Intermittent episodes of respiratory insufficiency due to muscle weakness....
Lower limb muscle weakness
Weakness of the muscles of the legs....
Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement....
Upper limb muscle weakness
Weakness of the muscles of the arms....
Tests used to investigate congenital myasthenic syndrome 1A
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 1A. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with congenital myasthenic syndrome 1A, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is congenital myasthenic syndrome 1A?
congenital myasthenic syndrome 1A is a health condition described in medical literature. Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene.
What are the symptoms of congenital myasthenic syndrome 1A?
congenital myasthenic syndrome 1A is associated with 8 symptoms in the medical literature we index, including Diaphragmatic weakness, Dysphagia, Fatigable weakness, Generalized muscle weakness, Intermittent episodes of respiratory insufficiency due to muscle weakness, Lower limb muscle weakness. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 1A diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 1A include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have congenital myasthenic syndrome 1A, please discuss your symptoms with a qualified healthcare provider.