progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
Also known as: POLG autosomal recessive progressive external ophthalmoplegia, autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 1, PEOB1, arPEO, autosomal recessive progressive external ophthalmoplegia, cerebellar ataxia infantile with progressive external ophthalmoplegia, progressive external ophthalmoplegia with cerebellar ataxia infantile.
Category: General
Symptoms associated with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
The following symptoms have been associated with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 in medical literature. Not everyone experiences the same symptoms.
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Diplopia
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision...
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Dysphagia
Difficulty in swallowing....
Facial palsy
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to contr...
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Proximal muscle weakness
A lack of strength of the proximal muscles....
Respiratory insufficiency due to muscle weakness
Information about Respiratory insufficiency due to muscle weakness....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1
Healthcare providers may order these tests when evaluating progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1. 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 recessive 1, which is why a clinical evaluation is important.
Carey-Fineman-Ziter syndrome 1
A rare condition characterized by the association of hypotonia, Moebius sequence (bilateral congenital facial ...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
Proximal spinal muscular atrophy
Proximal spinal muscular atrophy is a medical condition that may be associated with various symptoms and signs...
Steinert myotonic dystrophy
Steinert myotonic dystrophy is a medical condition that may be associated with various symptoms and signs....
oculopharyngodistal myopathy 1
oculopharyngodistal myopathy 1 is a medical condition that may be associated with various symptoms and signs....
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
A rare mitochondrial disease characterized by adult onset of the triad of sensory ataxic neuropathy, dysarthri...
Frequently Asked Questions
What is progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1?
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 is a health condition described in medical literature. Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene.
What are the symptoms of progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1?
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 is associated with 10 symptoms in the medical literature we index, including Depression, Diplopia, Distal muscle weakness, Dysphagia, Facial palsy, Intention tremor. Symptoms vary widely between individuals.
How is progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 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 recessive 1 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 recessive 1, please discuss your symptoms with a qualified healthcare provider.