early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a medical condition that may be associated with various symptoms and signs.
Also known as: PEBAT, encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum; PEBAT.
Category: General
Symptoms associated with early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
The following symptoms have been associated with early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 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...
Constipation
Infrequent or difficult evacuation of feces....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Muscle weakness
Reduced strength of muscles....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tongue fasciculations
Fasciculations or fibrillation affecting the tongue muscle....
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Tests used to investigate early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Healthcare providers may order these tests when evaluating early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome. 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 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, which is why a clinical evaluation is important.
MELAS
MELAS 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...
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...
developmental and epileptic encephalopathy, 51
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene....
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
Frequently Asked Questions
What is early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a health condition described in medical literature. early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome?
early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome is associated with 9 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Constipation, Deeply set eye, Epileptic spasm, Generalized tonic seizure, Muscle weakness. Symptoms vary widely between individuals.
How is early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 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 early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, please discuss your symptoms with a qualified healthcare provider.