congenital myasthenic syndrome 9
Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
Also known as: CMS9, MUSK congenital myasthenic syndrome, congenital myasthenic syndrome caused by mutation in MUSK, congenital myasthenic syndrome type 9, myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.
Category: General
Symptoms associated with congenital myasthenic syndrome 9
The following symptoms have been associated with congenital myasthenic syndrome 9 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)....
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....
Neck muscle weakness
Decreased strength of the neck musculature....
Proximal upper limb muscle weakness
A lack of strength of the proximal muscles of the arms....
Shoulder girdle muscle weakness
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refe...
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate congenital myasthenic syndrome 9
Healthcare providers may order these tests when evaluating congenital myasthenic syndrome 9. 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 9, which is why a clinical evaluation is important.
Congenital fiber-type disproportion myopathy
Congenital fiber-type disproportion myopathy is a medical condition that may be associated with various sympto...
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...
Synaptic congenital myasthenic syndrome
Synaptic congenital myasthenic syndrome is a medical condition that may be associated with various symptoms an...
congenital myopathy 10b, mild variant
congenital myopathy 10b, mild variant is a medical condition that may be associated with various symptoms and ...
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 9?
congenital myasthenic syndrome 9 is a health condition described in medical literature. Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene.
What are the symptoms of congenital myasthenic syndrome 9?
congenital myasthenic syndrome 9 is associated with 8 symptoms in the medical literature we index, including Axial muscle weakness, Dysphagia, Fatigable weakness, Generalized muscle weakness, Neck muscle weakness, Proximal upper limb muscle weakness. Symptoms vary widely between individuals.
How is congenital myasthenic syndrome 9 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with congenital myasthenic syndrome 9 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 9, please discuss your symptoms with a qualified healthcare provider.