congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
Also known as: CHAT congenital myasthenic syndrome, CMS6, CMSEA, FIM, congenital myasthenic syndrome 6, congenital myasthenic syndrome caused by mutation in CHAT, congenital myasthenic syndrome type 6, presynaptic congenital myasthenic syndrome 6, CMS Ia2, formerly, CMS w/episodic apnea.
Category: General
Symptoms associated with congenital myasthenic syndrome 6
The following symptoms have been associated with congenital myasthenic syndrome 6 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...
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 6
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 6. 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 6, 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 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset pro...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 6?
congenital myasthenic syndrome 6 is a health condition described in medical literature. Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
What are the symptoms of congenital myasthenic syndrome 6?
congenital myasthenic syndrome 6 is associated with 7 symptoms in the medical literature we index, including Bulbar palsy, Dysphagia, Episodic apnea induced by febrile illness or stress, Fatigable weakness, Ophthalmoparesis, Poor suck. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 6 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 6 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 6, please discuss your symptoms with a qualified healthcare provider.