mitochondrial complex IV deficiency, nuclear type 1
Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene.
Category: General
Symptoms associated with mitochondrial complex IV deficiency, nuclear type 1
The following symptoms have been associated with mitochondrial complex IV deficiency, nuclear type 1 in medical literature. Not everyone experiences the same symptoms.
Exertional dyspnea
Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
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....
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....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate mitochondrial complex IV deficiency, nuclear type 1
Healthcare providers may order these tests when evaluating mitochondrial complex IV deficiency, nuclear type 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 mitochondrial complex IV deficiency, nuclear type 1, which is why a clinical evaluation is important.
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
Mitochondrial DNA-associated Leigh syndrome
Mitochondrial DNA-associated Leigh syndrome is a medical condition that may be associated with various symptom...
Mitochondrial complex IV deficiency, nuclear type 2
Mitochondrial complex IV deficiency, nuclear type 2 is a medical condition that may be associated with various...
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 mitochondrial complex IV deficiency, nuclear type 1?
mitochondrial complex IV deficiency, nuclear type 1 is a health condition described in medical literature. Any mitochondrial complex IV deficiency in which the cause of the disease is a mutation in the SURF1 gene.
What are the symptoms of mitochondrial complex IV deficiency, nuclear type 1?
mitochondrial complex IV deficiency, nuclear type 1 is associated with 7 symptoms in the medical literature we index, including Exertional dyspnea, Failure to thrive, Ophthalmoparesis, Respiratory insufficiency due to muscle weakness, Seizure, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is mitochondrial complex IV deficiency, nuclear type 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with mitochondrial complex IV deficiency, nuclear type 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 mitochondrial complex IV deficiency, nuclear type 1, please discuss your symptoms with a qualified healthcare provider.