congenital myasthenic syndrome 20
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
Also known as: CMS20, SLC5A7 congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in SLC5A7, congenital myasthenic syndrome type 20, myasthenic syndrome, congenital, 20, presynaptic.
Category: General
Symptoms associated with congenital myasthenic syndrome 20
The following symptoms have been associated with congenital myasthenic syndrome 20 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....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Fatigable weakness
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. Tha...
Hypoventilation
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (...
Muscle weakness
Reduced strength of muscles....
Neck muscle weakness
Decreased strength of the neck musculature....
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....
Proximal muscle weakness
A lack of strength of the proximal muscles....
Tests used to investigate congenital myasthenic syndrome 20
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 20. 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 20, which is why a clinical evaluation is important.
Brown-Vialetto-van Laere syndrome 1
Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene....
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...
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
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 20?
congenital myasthenic syndrome 20 is a health condition described in medical literature. Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene.
What are the symptoms of congenital myasthenic syndrome 20?
congenital myasthenic syndrome 20 is associated with 10 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Facial palsy, Fatigable weakness, Hypoventilation, Muscle weakness. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 20 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 20 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 20, please discuss your symptoms with a qualified healthcare provider.