neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
The following symptoms have been associated with neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities in medical literature. Not everyone experiences the same symptoms.
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dry skin
Skin characterized by the lack of natural or normal moisture....
Dysphagia
Difficulty in swallowing....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Muscle weakness
Reduced strength of muscles....
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Weakness of facial musculature
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve)....
Tests used to investigate neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Healthcare providers may order these tests when evaluating neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities. 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 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, which is why a clinical evaluation is important.
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Morimoto-Ryu-Malicdan neuromuscular syndrome
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Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
Frequently Asked Questions
What is neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities?
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a health condition described in medical literature. neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities?
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is associated with 13 symptoms in the medical literature we index, including Deeply set eye, Dry skin, Dysphagia, Failure to thrive, Focal-onset seizure, Generalized tonic seizure. Symptoms vary widely between individuals.
How is neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities 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 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities, please discuss your symptoms with a qualified healthcare provider.