PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
The following symptoms have been associated with PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure on awakening
Bilateral tonic-clonic seizure of either generalized or focal onset occurring on or soon after wakening (typic...
Constipation
Infrequent or difficult evacuation of feces....
Dysphagia
Difficulty in swallowing....
Epileptic spasm
A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is ...
Excessive daytime somnolence
A state of abnormally strong desire for sleep during the daytime....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Hypoventilation
A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (...
Recurrent singultus
A contraction of the diaphragm that repeats several times per minute. In humans, the abrupt rush of air into t...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Healthcare providers may order these tests when evaluating PURA-related severe neonatal hypotonia-seizures-encephalopathy 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 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, which is why a clinical evaluation is important.
Kohlschutter-Tonz syndrome-like
Kohlschutter-Tonz syndrome-like is a medical condition that may be associated with various symptoms and signs....
chromosome 1p36 deletion syndrome
A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay,...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
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 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 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is a health condition described in medical literature. PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome?
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome is associated with 10 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure on awakening, Constipation, Dysphagia, Epileptic spasm, Excessive daytime somnolence, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with PURA-related severe neonatal hypotonia-seizures-encephalopathy 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 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, please discuss your symptoms with a qualified healthcare provider.