congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
Also known as: CMS4A, congenital myasthenic syndrome type 4A, Cms Ia1, congenital myasthenic syndrome type Ia1, myasthenic syndrome, congenital, 4A, slow-channel.
Category: General
Symptoms associated with congenital myasthenic syndrome 4A
The following symptoms have been associated with congenital myasthenic syndrome 4A in medical literature. Not everyone experiences the same symptoms.
Bulbar palsy
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X...
Dysphagia
Difficulty in swallowing....
Episodic apnea induced by febrile illness or stress
Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress....
Fatigable weakness
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. Tha...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Ophthalmoparesis
Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Tests used to investigate congenital myasthenic syndrome 4A
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 4A. 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 4A, which is why a clinical evaluation is important.
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptom...
congenital myasthenic syndrome 20
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene....
congenital myasthenic syndrome 5
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collageni...
congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. I...
myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-o...
Frequently Asked Questions
What is congenital myasthenic syndrome 4A?
congenital myasthenic syndrome 4A is a health condition described in medical literature. A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13.
What are the symptoms of congenital myasthenic syndrome 4A?
congenital myasthenic syndrome 4A is associated with 8 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Episodic apnea induced by febrile illness or stress, Fatigable weakness, Limb muscle weakness, Ophthalmoparesis. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 4A diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 4A 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 4A, please discuss your symptoms with a qualified healthcare provider.