Common symptoms
Ataxia can cause many different symptoms, which vary depending on the type of ataxia, the stage of the disease, and also from person to person.
Not everyone with ataxia has the same symptoms. Each person has their own journey.
Image generated with the support of artificial intelligence.
New symptoms may emerge, or existing symptoms may worsen slowly (over years) or more rapidly (over months), depending on the specific case. Note that even when a symptom does appear, it can be mild, moderate, or severe. Some common symptoms that may occur (not necessarily in all patients) with ataxias are listed below.
Typical symptoms of cerebellar ataxias
-
Difficulties with motor coordination and balance when walking.
-
Progressive deterioration of fine motor movements.
-
Slurred speech (dysarthria).
-
Difficulty swallowing (dysphagia).
-
Visual problems (abnormalities in eye movements, diplopia, nystagmus and others).
-
Tremors
Depending on the type of ataxia and other factors, the following may also occur at some point:
Dizziness and vertigo
Heart problems (in Friedreich's ataxia) such as cardiomyopathies and arrhythmias
Neuropathic pain
Spasticity
Restless legs syndrome
Muscle stiffness, cramps
Urinary incontinence
Fatigue
Affective-cognitive symptoms (anxiety, irritation, depression, memory problems, etc.).
Over time, people with ataxia may need canes, walkers, or wheelchairs (manual, motorized) to help them with their mobility.
Source: Text translated with adaptations from the NAF (National Ataxia Foundation) "What is Ataxia?" page. The image in Figure 1 comes from the same source and is shared here for purely educational (non-commercial) purposes.
Friedreich’s Ataxia
Friedreich’s ataxia is a multisystemic disease. Although the central and peripheral nervous systems are the most affected (especially the cerebellum, spinal cord, and dorsal roots), other body structures and systems are also compromised.
Image generated with the support of artificial intelligence.
-
In the cardiovascular system, hypertrophic cardiomyopathy is the most frequent manifestation. This complication may progress to heart failure or potentially fatal arrhythmias, constituting the main cause of mortality in FA. For this reason, regular cardiological monitoring is essential for the clinical management of these patients.
-
The endocrine/metabolic system may also present alterations, with diabetes mellitus being a relatively common comorbidity.
-
In the musculoskeletal system, scoliosis is particularly frequent. Other changes include pes cavus, toe deformities (such as hammer toes), and loss of muscle mass and strength secondary to peripheral neuropathy.
-
In addition, alterations in the visual and auditory systems may occur, as well as autonomic dysfunctions — for example, neurogenic bladder and intestinal constipation.
Spinocerebellar Ataxia Type 3 (SCA3)
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is an autosomal dominant hereditary neurodegenerative disorder caused by CAG repeat expansions in the ATXN3 gene. Although its primary manifestations occur in the central and peripheral nervous systems — with predominant involvement of the cerebellum, brainstem, and spinal tracts — SCA3 is also recognized as a multisystemic condition that may affect other organ systems to varying degrees among patients.
In addition to the classic motor impairments (ataxia, dystonia, parkinsonism, and peripheral neuropathy), a relevant aspect of SCA3 is that it may present cerebellar affective-cognitive symptoms as part of its clinical spectrum, including depression, anxiety, irritability, and other mood disorders. This highlights the need for a multidisciplinary approach to the care of SCA3 patients, involving neurology, psychiatry, physiotherapy, speech therapy, occupational therapy, and psychological support.
Each patient with ataxia has their own journey - what happens to one person will not necessarily happen to others, even if they have the same type of ataxia and are from the same family.