neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.
Also known as: CONDSIAS, childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome, neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures.
Category: General
Symptoms associated with neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
The following symptoms have been associated with neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Diplopia
Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Multifocal seizures
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)....
Muscle weakness
Reduced strength of 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....
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Tests used to investigate neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Healthcare providers may order these tests when evaluating neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures. 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, childhood-onset, stress-induced, with variable ataxia and seizures, which is why a clinical evaluation is important.
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
Morimoto-Ryu-Malicdan neuromuscular syndrome
Morimoto-Ryu-Malicdan neuromuscular syndrome is a medical condition that may be associated with various sympto...
amyloidosis, hereditary systemic 1
amyloidosis, hereditary systemic 1 is a medical condition that may be associated with various symptoms and sig...
hyperphosphatasia with intellectual disability syndrome 3
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the ...
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...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures?
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures is a health condition described in medical literature. An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development, with cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable. The cause is mutations in the ADPRHL2 gene.
What are the symptoms of neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures?
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures is associated with 9 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Diplopia, Generalized non-motor (absence) seizure, Intention tremor, Multifocal seizures, Muscle weakness. Symptoms vary widely between individuals.
How is neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures 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, childhood-onset, stress-induced, with variable ataxia and seizures, please discuss your symptoms with a qualified healthcare provider.