developmental and epileptic encephalopathy, 51
Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
Also known as: DEE51, EIEE51, MDH2 early infantile epileptic encephalopathy, developmental and epileptic encephalopathy 51, early infantile epileptic encephalopathy caused by mutation in MDH2, epileptic encephalopathy, early infantile, 51, epileptic encephalopathy, early infantile, 51; EIEE51, epileptic encephalopathy, early infantile, type 51.
Category: General
Symptoms associated with developmental and epileptic encephalopathy, 51
The following symptoms have been associated with developmental and epileptic encephalopathy, 51 in medical literature. Not everyone experiences the same symptoms.
Constipation
Infrequent or difficult evacuation of feces....
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
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 ...
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 ...
Tests used to investigate developmental and epileptic encephalopathy, 51
Healthcare providers may order these tests when evaluating developmental and epileptic encephalopathy, 51. 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 developmental and epileptic encephalopathy, 51, which is why a clinical evaluation is important.
Developmental and epileptic encephalopathy 122
Developmental and epileptic encephalopathy 122 is a medical condition that may be associated with various symp...
MELAS
MELAS is a medical condition that may be associated with various symptoms and signs....
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...
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures is a medical condition t...
Frequently Asked Questions
What is developmental and epileptic encephalopathy, 51?
developmental and epileptic encephalopathy, 51 is a health condition described in medical literature. Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
What are the symptoms of developmental and epileptic encephalopathy, 51?
developmental and epileptic encephalopathy, 51 is associated with 8 symptoms in the medical literature we index, including Constipation, Epileptic spasm, Failure to thrive, Focal-onset seizure, Generalized tonic seizure, Muscle weakness. Symptoms vary widely between individuals.
How is developmental and epileptic encephalopathy, 51 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with developmental and epileptic encephalopathy, 51 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 developmental and epileptic encephalopathy, 51, please discuss your symptoms with a qualified healthcare provider.