Spinocerebellar Ataxia(SCA)

Comprehensive Overview of Spinocerebellar Ataxia (SCA)

Spinocerebellar Ataxia (SCA) represents a group of hereditary neurodegenerative disorders characterized by progressive incoordination of gait and often accompanied by poor coordination of hands, speech, and eye movements. The condition arises due to degeneration of the cerebellum, the part of the brain that coordinates movement, as well as the spinal cord, hence the name "spinocerebellar." There are over 40 types of SCAs, each linked to different genetic mutations. Despite their genetic diversity, the clinical manifestations of SCAs are remarkably similar, making genetic testing essential for accurate diagnosis and management.

SCA is a genetic disorder that follows an autosomal dominant pattern of inheritance, meaning that a child has a 50% chance of inheriting the disorder if one parent carries the gene. The onset of symptoms can vary widely, from childhood to late adulthood, and the progression of the disease is often gradual but relentless.


The symptoms of SCA

The genetic mutations causing SCA often lead to the production of abnormal proteins that accumulate in nerve cells, particularly those in the cerebellum and spinal cord, eventually leading to cell death. As these cells die, the symptoms of ataxia become more pronounced, severely impacting the quality of life.


Clinical Utility

Genetic testing for SCA provides several critical benefits:


When to Consider Testing

Genetic testing for SCA is recommended in several scenarios:


MapmyGenome Offerings

MapmyGenome offers a comprehensive Spinocerebellar Ataxia (SCA) genetic testing panel designed to identify mutations across various SCA subtypes. The panel utilizes advanced sequencing technologies to provide a detailed analysis of the genes associated with SCA, offering the following benefits:

 

Learn More: 

Listen Now: Unraveling Spinocerebellar Ataxia: Listen to the Journey

Watch Now:  SCA Explained - Dive into Our Informative Video

 

FAQs




What is Spinocerebellar Ataxia (SCA)?

SCA is a group of genetic disorders characterized by progressive problems with movement and coordination due to degeneration of the cerebellum.

What does the SCA panel test for?

Who should consider this test?

What type of sample is required?

How long does it take to receive results?

Are there any special preparations needed before the test?

Will insurance cover the cost of the test?

Can the panel identify all types of SCA?

How are results communicated?

What should I do after receiving my results?