1. Mendelian
  2. Genes
  3. CASD1

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.

Table of contents:

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

SOURCES: OMIM ORPHANET


Potential gene panels for CASD1 gene

CASD1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CASD1 gene.

More info about this panel
United States.

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