What Is Ataxia?
The word ataxia means lack of coordination. People with ataxia have problems with balance and coordination when performing voluntary movements. The word “ataxia” does not indicate a specific disease. Rather, ataxia is a symptom that can result from a number of different diseases. These diseases affect the parts of the central nervous system that normally control balance and coordination.
The Northwestern Medicine Ataxia Clinic is designed to address all aspects of clinical care for patients suffering from unsteadiness or dysfunction of the cerebellum and its associated symptoms. Directed by Dr. Puneet Opal MD/PhD, the clinic provides a multidisciplinary, comprehensive approach to the diagnosis and management of the disorder, establishes cross-function collaboration among experts in neurology, nursing, genetics, social work and psychiatry, and raises awareness through outreach events and participation in clinical and translational research.
The Northwestern Medicine Ataxia Clinic provides state-of-the-art facilities to diagnose and provide care for patients with ataxia. Patients are evaluated for both acquired and genetic causes through clinical examination and ancillary laboratory testing and imaging.
The Ataxia Clinical Center is on the frontline of both basic and clinical research. The clinic is a member of the Clinical Research Consortium for the Study of Cerebellar Ataxias (CRC-SCA), a research consortium funded by the National Ataxia Foundation. In this consortium, patients with ataxias will be closely monitored to understand the natural progression of the disease and participate in clinical studies to evaluate potential therapeutic interventions. These clinical studies are closely connected with the research on cerebellar disorders at Northwestern University Feinberg School of Medicine. To find out more about the research conducted at Northwestern University Feinberg School of Medicine, click here.
Patients first meet with a neurologist who specializes in movement disorders. Based on this initial evaluation, procedures such as blood tests, magnetic resonance imaging (MRI) examination and other diagnostic tests might be recommended. All these tests can be performed at Northwestern Memorial Hospital or at outside institutions, depending on the patient's preference.
After the initial assessment and diagnostic work-up, the needs of each individual patient are addressed using a team-oriented approach. The neurologist at the Ataxia Clinic who is responsible for the patient care, collaborates with genetic counselors, physical therapists, occupational therapists, speech therapists, health care psychologists and social workers to create a customized management plan that can best address the patient's concerns. Such specialized services are available at Northwestern Memorial Hospital or at the nearby Shirley Ryan Abilitylab, one of the world's leading rehabilitation hospitals.
Educational material and contact information for local and national support groups are provided to each patient.
Types of ataxia include:
- Hereditary or genetic ataxia:
- Spinocerebellar ataxias (SCAs): Each child of a parent with SCA has a 50 percent chance of being affected. There are at least 26 types of SCAs, and the number keeps growing based on new research. SCAs typically present in adulthood, characterized by a unique set of symptoms. The only definitive way to identify what type of SCA affects a particular patient is through genetic testing.
- Friedreich ataxia: The most common form of recessively inherited ataxia, Friedreich ataxia, generally presents during childhood. In order for a child to be affected, both parents must be carriers of the disease gene. Carriers do not have symptoms, but the offspring of two carriers has a 25 percent chance of developing the disease. Children of two carriers have a 50 percent chance of being carriers themselves and a 25 percent chance of not inheriting the ataxia gene.
- Sporadic (degenerative) ataxia: People with sporadic (degenerative) ataxia have no family history of this disease. Diagnosis may be challenging, as no specific test is available. These forms of ataxia result from degeneration of the cerebral pathways that regulate balance and coordination. Symptoms generally arise in adulthood and may accompany additional symptoms such as Parkinsonian features (stiffness, slow movements, tremor at rest) or autonomic neuropathy (difficulty controlling blood pressure and bladder and bowel function).
- Secondary ataxia: Secondary ataxia can appear suddenly or gradually as a symptom of many medical and neurological conditions, including:
- Vascular injury (stroke)
- Metabolic problems, such as hypothyroidism and vitamin E or B12 deficiency
- Exposure to certain drugs or toxins, such as chronic alcohol exposure, heavy metals, and some seizure or cancer drugs
- Infectious diseases, such as HIV, syphilis or a viral infection of the brain
- Cancer, either in the brain or other areas of the body
- Multiple sclerosis
- Head trauma
- Cerebral palsy
- Congenital malformations