Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Presynaptic congenital myasthenic syndromes
The following symptoms have been associated with Presynaptic congenital myasthenic syndromes 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...
Diplopia
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision...
Distal lower limb muscle weakness
Reduced strength of the distal musculature of the legs....
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....
Episodic respiratory distress
Information about Episodic respiratory distress....
Fatigable weakness
A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. Tha...
Frontalis muscle weakness
Reduced strength of the frontalis muscle (which is located on the forehead)....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Intermittent episodes of respiratory insufficiency due to muscle weakness
Information about Intermittent episodes of respiratory insufficiency due to muscle weakness....
Limb-girdle muscle weakness
Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength...
Neck muscle weakness
Decreased strength of the neck musculature....
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....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate Presynaptic congenital myasthenic syndromes
Healthcare providers may order these tests when evaluating Presynaptic congenital myasthenic syndromes. 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 Presynaptic congenital myasthenic syndromes, which is why a clinical evaluation is important.
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2Z is a medical condition that may be associated with vari...
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....
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
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....
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is Presynaptic congenital myasthenic syndromes?
Presynaptic congenital myasthenic syndromes is a health condition described in medical literature. Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Presynaptic congenital myasthenic syndromes?
Presynaptic congenital myasthenic syndromes is associated with 17 symptoms in the medical literature we index, including Bulbar palsy, Diplopia, Distal lower limb muscle weakness, Dysphagia, Episodic apnea induced by febrile illness or stress, Episodic respiratory distress. Symptoms vary widely between individuals.
How is Presynaptic congenital myasthenic syndromes diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Presynaptic congenital myasthenic syndromes 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 Presynaptic congenital myasthenic syndromes, please discuss your symptoms with a qualified healthcare provider.