CASD1 gene related symptoms and diseases
All the information presented here about the CASD1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CASD1 gene
Symptoms // Phenotype | % Cases |
---|---|
Seizures | Very Common - Between 80% and 100% cases |
Involuntary movements | Very Common - Between 80% and 100% cases |
Limb myoclonus | Very Common - Between 80% and 100% cases |
Panic attack | Very Common - Between 80% and 100% cases |
Cortical myoclonus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with CASD1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Agoraphobia
- Retrocollis
- Personality disorder
- Axial dystonia
- Writer's cramp
- Torsion dystonia
- Laryngeal dystonia
- Obsessive-compulsive behavior
And 16 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CASD1 gene
Here you will find a list of rare diseases related to the CASD1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MYOCLONUS-DYSTONIA SYNDROME
Alternate names
MYOCLONUS-DYSTONIA SYNDROME Is also known as myoclonic dystonia, hereditary essential myoclonus, dystonia, alcohol-responsive, myoclonus-dystonia syndrome, myoclonus, hereditary essential, alcohol-responsive dystonia
Description
Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.
Most common symptoms of MYOCLONUS-DYSTONIA SYNDROME
- Seizures
- Generalized hypotonia
- Muscular hypotonia
- Cognitive impairment
- Tremor
More info about MYOCLONUS-DYSTONIA SYNDROME
Search interest in CASD1
Potential gene panels for CASD1 gene
CASD1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CASD1 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BARD1 MCEE CDH15 OXCT1 DISC2 PIGW FMR3