progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
Also known as: POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions, progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4, PEOA4.
Category: General
Symptoms associated with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
The following symptoms have been associated with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Myalgia
Pain in muscle....
Progressive muscle weakness
Information about Progressive muscle weakness....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Healthcare providers may order these tests when evaluating progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4. 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 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, which is why a clinical evaluation is important.
22q11.2 deletion syndrome
22q11.2 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Helsmoortel-van der Aa syndrome
Helsmoortel-van der Aa syndrome is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4?
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 is a health condition described in medical literature. Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene.
What are the symptoms of progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4?
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 is associated with 8 symptoms in the medical literature we index, including Constipation, Facial palsy, Failure to thrive, Gastroesophageal reflux, Limb muscle weakness, Myalgia. Symptoms vary widely between individuals.
How is progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 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 progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, please discuss your symptoms with a qualified healthcare provider.