September 25th is International Ataxia Awareness Day!

International Ataxia Awareness Day falls on September 25th of each year. The goal of International Ataxia Awareness Day is to spread awareness for this rare disease.

Ataxia is a condition that causes abnormal coordination of movement and balance. People with ataxia lack muscle control during voluntary activity. Symptoms may be linked to problems with the cerebellum, which is the part of the brain that controls physical movement. Because ataxia has many different origins and subtypes, it can be difficult to diagnose in early childhood.

What does ataxia look like in children?

Children with ataxia may have trouble walking. They typically walk with an unsteady, staggering gait. This is because their muscles can’t work together to allow them to walk or move without difficulty (called asynergic movements). They can also have involuntary movements of the eyes (nystagmus), tremors, and difficulty with speech. A neurologist evaluating a child for ataxia can evaluate their coordination through a demonstration of “finger to finger” or “finger to nose”, demonstration of “heal to knee”, or holding a full glass of water in a steady hand.

What causes ataxia?

Acute ataxia – sudden onset of symptoms

Overuse of certain anti-seizure medications
Intoxication from various elements including alcohol, ethylene glycol, lead, etc.
Deficiency of certain vitamins, including thiamine, cobalamin, vitamin E, zinc, and folate
Infections which affect the cerebellum (for example, Lyme Disease)
Certain types of cancers, mainly Hodgkin Lymphoma

Intermittent and remittent ataxia – also called “Episodic ataxias”

Certain types of migraines
Specific genetic conditions

Chronic ataxias – symptoms do not typically get worse over time, and are caused by damage to the cerebellum

After suffering from stroke
After suffering from lack of oxygen or blood flow to the brain (hypoxic ischemic encephalopathy)

Cerebellar progressive ataxias –group of neurodegenerative disorders distinguishable by clinical and genetic findings. Ataxias in this category can run through families in different patterns, and symptoms typically get worse over time. Examples of inherited ataxias that affect children include:

Friedreich ataxia
Ataxia telangiectasia
Infantile onset spinocerebellar ataxia

In children, tumors of the cerebellum or other lesions on the spinal cord are also among the most common causes of progressive ataxia.

What about ataxia in adults?

Certain types of ataxia are adult onset, meaning that individuals develop symptoms later on in their lifetime. Adult ataxia can be genetic, or it can occur by chance due to an acquired medical condition, such as a stroke or head trauma. Symptoms of genetic adult onset ataxia syndromes tend to worsen over time. Examples of inherited adult onset ataxias include:

Spinocerebellar ataxia (SCA)
Fragile X associated tremor ataxia syndrome
Certain subtypes of episodic ataxia

Can ataxia run through families?

Ataxias that run through families are described as hereditary. Progressive and episodic ataxias often have a genetic origin, while acute non-progressive ataxias are more likely to be acquired and non-hereditary. For this reason, it is very important for pediatric specialists to take a thorough medical and family history when establishing a diagnosis of ataxia. Possible hereditary ataxias warrant further evaluation, including genetic testing, and could have implications for other family members.

How can genetic testing help children with ataxia?

For children with a possible hereditary ataxia syndrome, genetic testing results may be able to:

Provide a diagnosis and make changes to a child’s medical care
Could explain other symptoms/medical problems a child may be experiencing in addition to the ataxia
Identify medical conditions a child could experience in the future
Identify other family members at risk

Want to learn more about genetic testing?

If your child has ataxia, it’s recommended to ask your child’s pediatrician for a referral to a genetics clinic. During a genetics visit, you and your child will meet with a medical geneticist and pediatric genetic counselor for a thorough medical and family history, and a physical exam. Together, they will discuss relevant genetic testing options available for your child. To find a genetic counselor near you, visit the “Find a Genetic Counselor” page on the National Society of Genetic Counselors website.

Another option to consider is the Essential Test from MyDevelopingChild. This type of genetic test can be purchased online. A genetic counselor will call you to review the child’s medical and family history, and a physician will approve the information prior to testing. If you think of our DNA as an instruction manual that tells our bodies how to grow and develop, the Essential test checks the book for extra or missing chapters. Children with certain genetic conditions that are caused by extra or missing pieces of DNA can have developmental delay and other neurological problems, including ataxia. To learn more information about the Essential Test and MyDevelopingChild, visit the “How it Works” page on the MyDevelopingChild website.

To learn more information about Ataxia and International Ataxia Awareness Day, visit the National Ataxia Foundation website.

References:

National Ataxia Foundation: https://ataxia.org/
Ataxia in children: early recognition and clinical evaluation. Pavone et. al. (2017) PMID: 28257643
Ataxia. Winchester, S. Singh, P., Mikati, M. (2013) PMID: 23622331
GeneReviews: Hereditary Ataxia Overview: https://www.ncbi.nlm.nih.gov/books/NBK1138/

Written by Melissa Manuelli, 2nd year GC student at Sarah Lawrence College