Pitt-Hopkins like syndrome 1
Pitt-Hopkins like syndrome 1 is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Pitt-Hopkins like syndrome 1
The following symptoms have been associated with Pitt-Hopkins like syndrome 1 in medical literature. Not everyone experiences the same symptoms.
Atonic seizure
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without ...
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...
Constipation
Infrequent or difficult evacuation of feces....
Focal aware seizure
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the pa...
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 ...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
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...
Tests used to investigate Pitt-Hopkins like syndrome 1
Healthcare providers may order these tests when evaluating Pitt-Hopkins like syndrome 1. 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 Pitt-Hopkins like syndrome 1, 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...
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
Lafora disease
Lafora disease 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 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
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 Pitt-Hopkins like syndrome 1?
Pitt-Hopkins like syndrome 1 is a health condition described in medical literature. Pitt-Hopkins like syndrome 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Pitt-Hopkins like syndrome 1?
Pitt-Hopkins like syndrome 1 is associated with 12 symptoms in the medical literature we index, including Atonic seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Constipation, Focal aware seizure, Focal impaired awareness seizure. Symptoms vary widely between individuals.
How is Pitt-Hopkins like syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Pitt-Hopkins like syndrome 1 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 Pitt-Hopkins like syndrome 1, please discuss your symptoms with a qualified healthcare provider.