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 developmental delay and intellectual disability, seizures of various types, and tremor and dyskinetic movements, with death in early childhood in some cases.
Also known as: UNC13A-related neurodevelopmental disorder with seizures and movement disorder.
Category: General
Symptoms associated with neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
The following symptoms have been associated with neurodevelopmental disorder with speech delay, movement abnormalities, and seizures in medical literature. Not everyone experiences the same symptoms.
Action tremor
A tremor present when the limbs are active, either when outstretched in a certain position or throughout a vol...
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Focal impaired awareness seizure
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset s...
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hemiparesis
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete ...
Intention tremor
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an o...
Limb tremor
Information about Limb tremor....
Multifocal seizures
Seizures that start from several different areas of the brain (i.e., with multiple ictal onset locations)....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
Healthcare providers may order these tests when evaluating neurodevelopmental disorder with speech delay, movement abnormalities, 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 neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, which is why a clinical evaluation is important.
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
congenital disorder of glycosylation, type IIcc
congenital disorder of glycosylation, type IIcc is a medical condition that may be associated with various sym...
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 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
neurodevelopmental disorder with poor growth, seizures, and brain abnormalities is a medical condition that ma...
Frequently Asked Questions
What is neurodevelopmental disorder with speech delay, movement abnormalities, and seizures?
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures is a health condition described in medical literature. A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of developmental delay and intellectual disability, seizures of various types, and tremor and dyskinetic movements, with death in early childhood in some cases.
What are the symptoms of neurodevelopmental disorder with speech delay, movement abnormalities, and seizures?
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures is associated with 18 symptoms in the medical literature we index, including Action tremor, Anxiety, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Failure to thrive, Febrile convulsion. Symptoms vary widely between individuals.
How is neurodevelopmental disorder with speech delay, movement abnormalities, and seizures diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with neurodevelopmental disorder with speech delay, movement abnormalities, 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 neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, please discuss your symptoms with a qualified healthcare provider.