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Ataxia is a condition that indicates lack of muscle control during voluntary movements like picking up objects or walking. In other words it refers to the loss of coordination of muscular movement. Ataxia can affect speech, eye movement, swallowing etc. Persistent ataxia in a person may be due to damage in the cerebellum, i.e. the part of the brain that controls muscle coordination. For example, gait ataxia refers to the condition of walking difficulties owing to a tumor in the brain stem. There are different types of ataxia:

Ataxia causes

Damage or degeneration to the nerve cells in the brain that controls muscle coordination causes ataxia. Diseases damaging the spinal cord and peripheral nerves connecting the cerebellum and muscles may cause ataxia. Other common causes for Ataxia include:

  • Damage or degeneration of nerve cells in the part of the brain that controls muscle coordination.
  • Head trauma
  • Vitamin B12 deficiency
  • Brain tumor
  • Hereditary - in a few cases, an inherited gene may have caused the condition.
  • Alcohol abuse
  • Multiple sclerosis
  • Toxic reaction

    Ataxia symptoms

    Ataxia may develop over a period of time or may show up suddenly. Common symptoms include:

    • Poor coordination
    • Change in speech
    • Stumbling while walking
    • Difficulty in fine motor tasks like eating, buttoning the shirt, writing, etc
    • Difficulty in swallowing
    • Involuntary eye movement
    • Confused facial expressions
    • Problems with balance
    • Cold feet due to poor muscle activity
    • Vision problem
    • Hearing problem
    • Body tremors

    Cerebellum ataxia

    Dysfunction of cerebellum leads to this condition. Based on whether the cerebellum has lesions on one or both sides, the symptoms may vary. This condition may set in between the ages of 4 and 26 and can cause the following symptoms:

  • Asynergy (lack of coordination between organs, limbs, joints or muscles)
  • Hypotonia
  • Dysdiadochokinesia - inability to perform rapid, alternating movements
  • Dysmetria - impaired ability to control distance, speed and power of an arm, leg, hand or eye movement
  • Dyschronometria - difficulty in estimating the time that has passed.

    Sensory ataxia

    Proprioception (sense of relative position of neighboring parts of the body) is lost in this condition. A person suffering from this condition may face the following symptoms:

  • Unsteadiness or stumbling while walking/moving around.
  • With each step, the heel strikes hard while touching the ground.
  • Postural problems in poorly lit conditions.
  • Difficulty in performing voluntary movements.

    Vestibular ataxia

    Vestibular system is affected and so the following symptoms may be experienced:

  • Vertigo
  • Nausea
  • Vomiting

    Ataxia diagnosis

    Diagnosis for ataxia include the following

  • Imaging studies including CT, MRI help diagnose the condition. Shrinkage of the cerebellum and other brain structures can be studied using MRI.
  • Genetic testing helps in diagnosing hereditary ataxia.
  • Lumbar Puncture

    Ataxia Treatment

    Though there is no specific treatment for ataxia, in a few cases treating the underlying cause can cure the condition. Virus induced ataxia gets cured on its own with time. The other available common treatments for ataxia include:

  • Therapies such as speech therapy in case of slurred speech, occupational therapy to handle day to day tasks and physical therapy to build strength of muscles and enhance its mobility.

    Friedreich's Ataxia

    Friedreich's ataxia is an autosomal recessive inherited disease which may cause progressive damage to the nervous system. This form of ataxia results from degeneration of nervous tissues in the spinal cord (the nerves get thinner). The sensory neurons are damaged thus affecting the muscle movement of the legs and arms. The condition does not affect the cognitive functions (reasoning and thinking ability).

    The condition may set in childhood and may worsen with age thus completely crippling the movement of a person. The condition can incapacitate a person and confine him/her to a wheelchair. Friedreich's ataxia is the most common form of hereditary ataxia. This condition may reduce the life span of the person.

    Friedreich's Ataxia Cause

    Individuals develop this condition only if they have inherited two copies of the defective FXN gene, one from the father and one from the mother. If the person has only copy of the gene, he/she is called the carrier and may not develop the disease but may pass on the gene to his/her kids in the future. About 1 in 90 Americans of European ancestry is a potential carrier.

    Friedreich's ataxia symptoms

    Children with FA or Friedreich's ataxia tend to trip often and graze furniture and doorways. Muscle cramps and spasms are often experienced. Nystagmus occurs at an advanced stage along with loss of visual acuity.

    • Weakness of muscles in the arms and legs
    • Hearing impairment
    • Loss of coordination
    • Vision impairment
    • Slurred speech
    • Scoliosis (curvature of the spine)
    • Deformity in the feet
    • Shortness of breath
    • Palpitations
    • Diabetes in some people

    Friedreich's ataxia diagnosis

    Diagnosis includes physical examination by the physician and the following tests:

    • ECG to understand the heart beat pattern.
    • EMG to understand the electrical activity in the muscles.
    • Echocardiogram for better understanding of the heart's performance.
    • Blood tests to check the elevated glucose level in blood and to check vitamin E levels.
    • MRI and CT scans to understand the brain and spine functioning.
    • Nerve conduction studies to assess and measure the speed of nerve impulses

    Friedreich's ataxia treatment

    Though there is no proven treatment for Friedreich's ataxia, the associated symptoms can be treated. Physical therapy for orthopedic problems, cure for diabetes can be offered.

    Prion Disease

    Prion diseases are Transmissible Spongiform Encephalopathies or TSE that affect humans and animals. In humans, they cause neurological disorders that are progressively degenerative. A prion is an abnormal pathogen that affects proteins found in the brain causing them to fold and clump unnaturally. This then leads to brain damage that is progressive. Prion diseases may occur spontaneously, may be inherited or may be acquired from contaminated material.

    The most common form of prion disease is Creutzfeldt Jakob Disease or CJD. A variant of CJD is the 'mad cow disease'. The infection passes on to humans through contaminated meat. The most common pathologic feature of CJD is the formation of vacuoles (fluid filled spaces) in the brain giving rise to sponge-like appearance. CJD is one of several spongiform encephalopathies. Others include Kuru and Gerstmann Straussler Scheinker Syndrome.

    Typical symptoms of prion disease include muscle stiffness, dementia, hallucinations, ataxia and fatigue. There is a change in the personality and behavior of the person. Diagnostic tests such as brain MRI, Spinal tap, EEG and blood tests are done to understand the condition. Brain tissue biopsy helps to confirm the disease. With rapid progression of the disease, the patient needs help in taking care of himself and might need to be moved to assisted care.

    Kuru is another degenerative human spongiform encephalopathy disease that afflicted the Fore people from Papua, New Guinea due to ritual cannibalism.

    GSS or Gerstmann Straussler Scheinker Syndrome is a rare neurological disorder due to brain degeneration. It is mostly inherited and sets in middle age. Initially the patient suffers cerebellar ataxia (lack of muscular coordination) and gradually deteriorates to dementia. There might be Nystagmus (rapid involuntary eye movements) and visual problems. There is a possibility of developing Parkinsons disease too. With rapid progression of the disease, the patient needs help in taking care of himself and might need to be moved to assisted care.

    FFI or Fatal Familial Insomnia is a type of prion disease where the patient has difficulty in walking and falling asleep. There might be weight loss and excessive tears in the eye. It rapidly deteriorates to loss of consciousness and death. Initially the patient suffers insomnia that later worsens to include panic attacks, phobia and hallucinations. There might be weight loss and incontinence. After this, the patient might suffer dementia and sudden death.

    Tags: #Ataxia #Friedreich's Ataxia #Prion Disease
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    Collection of Pages - Last revised Date: July 23, 2024