myasthenic syndrome, congenital, 1B, fast-channel
A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
Also known as: CMS1B, congenital myasthenic syndrome type 1B, myasthenic syndrome, congenital, 1B, fast-channel.
Category: General
Symptoms associated with myasthenic syndrome, congenital, 1B, fast-channel
The following symptoms have been associated with myasthenic syndrome, congenital, 1B, fast-channel 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...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
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....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate myasthenic syndrome, congenital, 1B, fast-channel
Healthcare providers may order these tests when evaluating myasthenic syndrome, congenital, 1B, fast-channel. 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 myasthenic syndrome, congenital, 1B, fast-channel, which is why a clinical evaluation is important.
Mitochondrial DNA depletion syndrome, myopathic form
Mitochondrial DNA depletion syndrome, myopathic form is a medical condition that may be associated with variou...
Nemaline myopathy 3
Nemaline myopathy 3 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...
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 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset pro...
nemaline myopathy 2
An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generali...
Frequently Asked Questions
What is myasthenic syndrome, congenital, 1B, fast-channel?
myasthenic syndrome, congenital, 1B, fast-channel is a health condition described in medical literature. A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has material basis in mutation in the CHRNA1 gene on chromosome 2q.
What are the symptoms of myasthenic syndrome, congenital, 1B, fast-channel?
myasthenic syndrome, congenital, 1B, fast-channel is associated with 10 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Facial palsy, Generalized muscle weakness, Limb muscle weakness, Neck muscle weakness. Symptoms vary widely between individuals.
How is myasthenic syndrome, congenital, 1B, fast-channel diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with myasthenic syndrome, congenital, 1B, fast-channel 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 myasthenic syndrome, congenital, 1B, fast-channel, please discuss your symptoms with a qualified healthcare provider.