Ataxia: Types, Symptoms, Causes, Diagnosis and Treatment

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1Overview

Ataxia is a condition wherein there are abnormal and uncoordinated movements.
It is described as the lack of muscle control or coordination of voluntary movements including walking, picking up objects and moving around.

The disease is characterized by an unsteady and staggering gait. Many motor activities can be called ataxic if they appear to other people as uncoordinated. Usually, ataxia is a signal of an underlying medical condition that can affect many movements, and even difficulties with eye movements, speech, and swallowing.

When ataxia is not treated, or the underlying cause is not addressed immediately,
it may lead to damage to the part of the brain that is responsible for controlling muscle coordination, which is called the cerebellum.

Ataxia can affect any part of the body and patients can have problems with balance, walking, swallowing, speaking, writing, eating and even seeing.

2Types

Ataxia comes in various forms and types such as hereditary ataxia, acquired ataxia and idiopathic late-onset cerebellar ataxia (ILOCA).

Hereditary ataxiaThese type of ataxia is hereditary, or can run in families. This type of ataxia is characterized by a defect in a certain gene that creates abnormal proteins. These proteins alter the function of the various nerve cells in the body, particularly those found in the spinal cord and cerebellum.

The proteins cause the degeneration of these parts of the nervous system, leading to ataxia. As the disease progresses, the difficulties with coordination also worsen.

Autosomal dominant ataxia, an autosomal recessive ataxia, which is both hereditary ataxias. In these types, there are subtypes including Spinocerebellar ataxias, Episodic ataxia (EA), Friedreich’s ataxia, Ataxia-telangiectasia, Congenital cerebellar ataxia, and Wilson’s disease.

Autosomal dominant ataxias

Episodic ataxia (EA) – Episodic ataxias involve episodes of attacks. There are seven known types of ataxia (from EA1 to EA7). The most common types are EA1 and EA2. EA1 ataxia is characterized by brief attacks that may last from seconds to a few minutes.
These attacks are usually stimulated by sudden movement, being stunned and stress. On the other hand, EA2 ataxia has longer episodes which can last from 30 minutes to about six hours. This can also be triggered by stress.

Pinocerebellar ataxia – Cerebellar ataxia and cerebellar degeneration are the most common of all autosomal dominant ataxia genes.

Autosomal Recessive Ataxias

Friedreich’s ataxiaThis is a common type of hereditary ataxia which involves damage to the cerebellum, peripheral nerves, and spinal cord. The peripheral nerves are the ones that carry the signals from the brain to the muscles and vice versa.

The first signs of this ataxia is a problem with walking and then it progresses to the trunk and arms. Eventually, the muscles weaken and waste away, leading to some deformities involving the lower legs, feet, and hands.

Congenital cerebellar ataxia – This type of ataxia is caused by the damage to the cerebellum which is already present at birth.

Wilson’s disease – This disease is characterized by the accumulation of copper in the brain, liver and other organs. This may lead to neurological problems like ataxia.

Ataxia-telangiectasiaThis type of ataxia is rare but can progress gradually. It starts in childhood and causes the degeneration of the brain and the other systems in the body. The disease may also affect the immune system, making it weak, which makes the person vulnerable to certain infections and cancers.

Acquired Ataxia – Acquired ataxia comes from other conditions such as stroke, trauma, multiple sclerosis (MS), nutritional deficiencies, brain tumor and other issues or problems that cause brain damage.

Idiopathic late-onset cerebellar ataxia (ILOCA) – This is a condition wherein the brain becomes damaged over time for unknown reasons or etiology.

3Symptoms

The signs and symptoms of ataxia include:

Gait or posture problems or abnormalities – There are problems in maintaining normal upright posture, coordinated walking, running and balance. These may lead to an unsteady gait that may cause tripping, falling, staggering, unsteadiness on the stairs and the inability to move in escalators and boats.

Speech and swallowing problems – Aside from gait problems, the person with ataxia may find it hard to talk or swallows. The speech is slurred, indistinct, slow, and has an abnormal rhythm. Moreover, there is difficulty in swallowing or sometimes, the person may choke even on water.

Fine motor incoordination – This is characterized by the difficulty in opening jars, buttoning clothes, writing, cutting food, sewing, typing and playing an instrument.

Increased fatigue – Due to cerebellar atrophy, people with ataxia may experience severe and unexpected fatigue when doing even just normal activities. Also, the problems with the coordination of movements may cause fatigue because of the need to exert more effort to perform the activities.

Visual abnormalities – Some of the problems encountered by people with ataxia are a blurred or double vision, leading to difficulty in reading and moving from word to word, and problems in shifting the gaze on moving objects.

Cognitive and mood problems – Aside from problems in motor abilities, patients with cerebellar degeneration may have cognitive and emotional difficulties. This is because the cerebellum plays a major role in some forms of thinking and they may find it hard to recall new information. They may also find it hard to perform decision making and keeping thoughts in their proper sequence.

4Causes

Ataxia is typically caused by the damage to a part of the brain called the cerebellum. However, spinal cord and nerve damage may also cause ataxia. The cerebellum is the part of the brain responsible for controlling sitting and walking balance, eye movements, limb coordination, and speech.

The damage and degeneration of the nerve cells in the cerebellum may result in ataxia. The most common causes of ataxia include:

  • Head trauma
  • Stroke
  • Autoimmune diseases
  • Cerebral palsy
  • Infections
  • Paraneoplastic Syndromes
  • Toxic reaction to medicines
  • Tumor in the brain
  • Alcohol and drug intoxication
  • Vitamin E, vitamin B-12 or thiamine deficiency
  • Multiple sclerosis (MS)
  • Underactive thyroid gland
  • Toxic chemicals

5Diagnosis

The doctor may conduct a medical history taking and complete physical examination as soon as symptoms such as problems with balance and coordination surfaces.

Medical history – The doctor will assess for the medical and family history of the patient.

Physical examination – the doctor may conduct a physical examination, noting the noticeable signs of uncoordinated movements and speech problems.

Further Testing

If the symptoms show that an underlying condition may cause the ataxia, the doctor will refer the patient to a neurologist, a specialist in the brain and nervous system. The tests usually recommended are genetic testing and imaging scans.

Genetic testing involves taking blood samples and checking the DNA for any genetic mutation that may be linked to the emergence of ataxia.

Imaging tests or brain scans such as CT scan and MRI are used to check for certain physical or anatomical abnormalities in the brain that could be caused by certain types of hereditary ataxia.

The other tests recommended are a lumbar puncture, to test for any abnormalities in the cerebrospinal fluid, nerve conduction studies to test the electrical activity of the muscles and nerves and videofluoroscopy, a continuous type of X-ray to scan the patient while swallowing food.

6Treatment

At present, there is no treatment, particularly for ataxia. However, in some cases, where the cause is an underlying medical condition, treating this condition may resolve the condition. The treatment of ataxia depends on the cause of the condition. For instance, if the cause is a medication, stopping the intake may resolve the ataxia.

The doctor, however, may recommend treatments to manage the numerous symptoms like pain, dizziness, and fatigue.

For other people with movement problems, adaptive devices and therapies are recommended to manage these difficulties.

Adaptive devices – If the ataxia is caused by untreatable conditions such as cerebral palsy and multiple sclerosis, the doctor may recommend the use of adaptive devices like walkers to aid in walking, hiking sticks, crutches, canes, communication aids for speaking, and modified utensils for eating.

Therapies – Today, patients can have therapies which are aimed to help in coordination and mobility. The most common therapies include physical therapy to help in movements, speech therapy to improve speech and eventually aid in swallowing and occupational therapy to help with daily activities.

Symptomatic treatments

Muscle spasms and stiffness – The doctor may prescribe muscle relaxants to control these symptoms.

Bladder problems – Patients experiencing bladder problems may have urinary incontinence and urinary urgency. Some self-care techniques can help these symptoms such as avoiding drinks that can stimulate urine production such as alcohol and drinks with caffeine.

Eye problems – Eye problems are common in people with ataxia. Treatments are used to control the eye muscles from moving uncontrollably.

Treating the underlying cause:

Some faces of ataxia improve if the underlying cause is stopped or managed. For instance, some people with vitamin E deficiency may experience ataxia. This can be improved by taking vitamin E supplements.

Moreover, episodic ataxia can be controlled by a medicine named acetazolamide and by preventing triggers like alcohol, caffeine, and stress. In acquired ataxia cases like infections, antiviral and antibiotics can be used. If the ataxia is caused by stroke or severe head injury, it may be hard to improve the condition.