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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.


Ataxia

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.

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    Bibliography / Reference

    Collection of Pages - Last revised Date: December 12, 2017