cerebellar dysfunction with variable cognitive and behavioral abnormalities
Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
Also known as: CAMTA1-related disorder, CANPMR, cerebellar ataxia, nonprogressive, with intellectual disability, cerebellar ataxia, nonprogressive, with mental retardation, cerebellar dysfunction with variable cognitive and behavioral abnormalities, non-progressive cerebellar ataxia with intellectual disability, nonprogressive cerebellar ataxia with intellectual disability.
Category: General
Symptoms associated with cerebellar dysfunction with variable cognitive and behavioral abnormalities
The following symptoms have been associated with cerebellar dysfunction with variable cognitive and behavioral abnormalities 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...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized myoclonic-atonic seizure
A generalized myoclonic-atonic seizure is a type of generalized motor seizure characterized by a myoclonic jer...
Hand tremor
An unintentional, oscillating to-and-fro muscle movement affecting the hand....
Palpebral edema
Edema in the region of the eyelids....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate cerebellar dysfunction with variable cognitive and behavioral abnormalities
Healthcare providers may order these tests when evaluating cerebellar dysfunction with variable cognitive and behavioral abnormalities. 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 cerebellar dysfunction with variable cognitive and behavioral abnormalities, which is why a clinical evaluation is important.
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
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...
developmental and epileptic encephalopathy 100
developmental and epileptic encephalopathy 100 is a medical condition that may be associated with various symp...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
intellectual disability, autosomal dominant 54
intellectual disability, autosomal dominant 54 is a medical condition that may be associated with various symp...
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities
neurodevelopmental disorder with early-onset seizures, facial dysmorphism, and behavioral abnormalities is a m...
Frequently Asked Questions
What is cerebellar dysfunction with variable cognitive and behavioral abnormalities?
cerebellar dysfunction with variable cognitive and behavioral abnormalities is a health condition described in medical literature. Non-progressive cerebellar ataxia with intellectual deficit is a rare subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1) characterized by the onset in infancy of cerebellar ataxia, neonatal hypotonia (in some), mild developmental delay and, in later life, intellectual disability. Less common features include dysarthria, dysmetria and dysmorphic facial features (long face, bulbous nose long philtrum, thick lower lip and pointed chin).
What are the symptoms of cerebellar dysfunction with variable cognitive and behavioral abnormalities?
cerebellar dysfunction with variable cognitive and behavioral abnormalities is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Chronic constipation, Gastroesophageal reflux, Generalized myoclonic-atonic seizure, Hand tremor, Palpebral edema. Symptoms vary widely between individuals.
How is cerebellar dysfunction with variable cognitive and behavioral abnormalities diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with cerebellar dysfunction with variable cognitive and behavioral abnormalities 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 cerebellar dysfunction with variable cognitive and behavioral abnormalities, please discuss your symptoms with a qualified healthcare provider.