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.
Friedreich's ataxia diagnosis
Diagnosis includes physical examination by the physician and the following tests:
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 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:
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:
Ataxia may develop over a period of time or may show up suddenly. Common symptoms include:
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:
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:
Vestibular system is affected and so the following symptoms may be experienced:
Diagnosis for ataxia include the following
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:
Bibliography / Reference
Collection of Pages - Last revised Date: December 18, 2018