congenital myasthenic syndrome 5
Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
Also known as: CMS5, COLQ congenital myasthenic syndrome, EAD, Engel congenital myasthenic syndrome, congenital myasthenic syndrome 5, congenital myasthenic syndrome caused by mutation in COLQ, congenital myasthenic syndrome type 5, myasthenic syndrome, congenital, type 5, Cms Ic, myasthenic syndrome, congenital, 5.
Category: General
Symptoms associated with congenital myasthenic syndrome 5
The following symptoms have been associated with congenital myasthenic syndrome 5 in medical literature. Not everyone experiences the same symptoms.
Dysphagia
Difficulty in swallowing....
Fatigable weakness
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. Tha...
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....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Tests used to investigate congenital myasthenic syndrome 5
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 5. 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 5, which is why a clinical evaluation is important.
Congenital myasthenic syndrome
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Presynaptic congenital myasthenic syndromes
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Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
congenital myasthenic syndrome 4A
A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset pro...
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 5?
congenital myasthenic syndrome 5 is a health condition described in medical literature. Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
What are the symptoms of congenital myasthenic syndrome 5?
congenital myasthenic syndrome 5 is associated with 7 symptoms in the medical literature we index, including Dysphagia, Fatigable weakness, Generalized muscle weakness, Limb muscle weakness, Neck muscle weakness, Ophthalmoparesis. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 5 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 5 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 5, please discuss your symptoms with a qualified healthcare provider.