Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Synaptic congenital myasthenic syndrome
The following symptoms have been associated with Synaptic congenital myasthenic syndrome in medical literature. Not everyone experiences the same symptoms.
Axial muscle weakness
Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Exertional dyspnea
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Hand muscle weakness
Reduced strength of the musculature of the hand....
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....
Scapular winging
Abnormal protrusion of the scapula away from the surface of the back....
Tests used to investigate Synaptic congenital myasthenic syndrome
Healthcare providers may order these tests when evaluating Synaptic congenital myasthenic syndrome. 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 Synaptic congenital myasthenic syndrome, which is why a clinical evaluation is important.
Bethlem muscular dystrophy
Bethlem muscular dystrophy is a medical condition that may be associated with various symptoms and signs....
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....
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
congenital myasthenic syndrome 20
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene....
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...
Frequently Asked Questions
What is Synaptic congenital myasthenic syndrome?
Synaptic congenital myasthenic syndrome is a health condition described in medical literature. Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Synaptic congenital myasthenic syndrome?
Synaptic congenital myasthenic syndrome is associated with 14 symptoms in the medical literature we index, including Axial muscle weakness, Distal muscle weakness, Dysphagia, Exertional dyspnea, Facial palsy, Generalized muscle weakness. Symptoms vary widely between individuals.
How is Synaptic congenital myasthenic syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Synaptic congenital myasthenic syndrome 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 Synaptic congenital myasthenic syndrome, please discuss your symptoms with a qualified healthcare provider.