About spinal ataxia, hereditofamilial

What is spinal ataxia, hereditofamilial?

Friedreich's Ataxia is a genetic, progressive, neurologic movement disorder that typically becomes apparent before adolescence. Initial symptoms may include unsteady posture, frequent falling, and progressive difficulties walking due to an impaired ability to coordinate voluntary movements (ataxia). Affected individuals may also develop abnormalities of certain reflexes; characteristic foot deformities; increasing incoordination of the arms and hands; slurred speech (dysarthria); and rapid, involuntary eye movements (nystagmus). Friedreich's Ataxia may also be associated with cardiomyopathy, a disease of cardiac muscle that may be characterized by shortness of breath upon exertion (dyspnea), chest pain, and irregularities in heart rhythm (cardiac arrythmias). Some affected individuals may also develop diabetes mellitus, a condition in which there is insufficient secretion of the hormone insulin. Primary symptoms may include abnormally increased thirst and urination (polydipsia and polyuria), weight loss, lack of appetite, fatigue, and blurred vision.

Friedreich's Ataxia may be inherited as an autosomal recessive trait. Cases in which a family history of the disease has not been found may represent new genetic changes (mutations) that occur spontaneously (sporadically). Friedreich's Ataxia results from mutations of a gene known as "X25" or "frataxin" located on the long arm (q) of chromosome 9 (9q13). In most affected individuals, the frataxin gene contains errors in the coded "building blocks" (nucleotide bases) that make up the gene's instructions. The symptoms and findings associated with Friedreich's Ataxia are thought to result primarily from degenerative changes of nerve fibers of the spinal cord as well as peripheral nerves, which are the motor and sensory nerves and groups of nerve cell bodies (ganglia) outside the brain and spinal cord.

What are the symptoms for spinal ataxia, hereditofamilial?

Involuntary eye movements symptom was found in the spinal ataxia, hereditofamilial condition

Friedreich’s ataxia can be diagnosed between the age 2 and a person’s early 50s, but it’s most commonly diagnosed between ages 10 and 15.

Difficulty with walking is the most common initial symptom of the condition. Other symptoms include:

  • vision changes
  • loss of hearing
  • weak muscles
  • lack of reflexes in your legs
  • poor coordination or lack of coordination
  • speech problems
  • involuntary eye movements
  • foot deformities, such as clubfoot
  • difficulty sensing vibrations in your legs and feet

Many people with this condition also have some form of heart disease. Approximately 75 percent of people with Friedreich’s ataxia have heart abnormalities. The most common type is hypertrophic cardiomyopathy, a thickening of the heart muscle.

The symptoms of heart disease might include heart palpitations, chest pain, dizziness, light-headedness, or shortness of breath. Friedreich’s ataxia is also associated with a greater risk of developing diabetes.

What are the causes for spinal ataxia, hereditofamilial?

Friedreich’s ataxia is a genetic disorder that’s inherited from both parents by what’s called “autosomal recessive transmission.” The disease is linked to a gene called FXN. Normally this gene will cause your body to produce up to 33 copies of a specific DNA sequence.

In people with Friedreich’s ataxia, this sequence may repeat 66 to over 1,000 times, according to U.S. National Library of Medicine’s Genetics Home Reference.

When production of this DNA sequence spirals out of control, severe damage to the brain’s cerebellum and the spinal cord can result.

People with a family history of Friedreich’s ataxia are at greater risk of inheriting this disease. If the defective gene is only passed down from one parent, the person becomes a carrier of the disease but usually doesn’t experience symptoms of it.

What are the treatments for spinal ataxia, hereditofamilial?

Treatment of ataxia is symptomatic and supportive. Continuous medical supervision to avoid potential complications involving the heart, lungs spine, bones and muscles is recommended. Mental functions usually remain unaffected in most forms of hereditary ataxia but emotional strain can affect patients and their families. In such cases, psychological counseling may be helpful.

Physical therapy may be recommended by a physician. In addition, various aids may assist muscular movement. Some drugs may be useful in treating some symptoms of ataxia. Propanalol may be effective against static tremors, for instance. Dantrolene, Baclofen, or Tizanidine may help some patients with muscle spasms of the legs. Genetic counseling will be of benefit for patients and families affected by the hereditary ataxias.

What are the risk factors for spinal ataxia, hereditofamilial?

People with a family history of Friedreich’s ataxia are at greater risk of inheriting this disease. If the defective gene is only passed down from one parent, the person becomes a carrier of the disease but usually doesn’t experience symptoms of it.

Is there a cure/medications for spinal ataxia, hereditofamilial?

Heredofamilial Spinal Ataxia are progressive neurological autosomal dominant illnesses that exhibit clinical and genetic heterogeneity. Although the age of beginning for Spinal Ataxia, heredofamilial varies widely, it typically occurs between the third and fifth decade of life.

Cure or Medication for Spinal Ataxia, heredofamilial

  • Spinal Ataxia, heredofamilial does not have a specific treatment.
  • In some circumstances, fixing the underlying issue may help the Ataxia get better.
  • Other instances, such Ataxia brought on by chickenpox or other viral diseases, are more likely to go away on their own.
  • To manage your Spinal Ataxia, heredofamilial, your doctor can suggest adaptable tools or treatments.
  • Treatments may help other symptoms like stiffness, tremor, and dizziness.


  • Unless Spinal Ataxia, heredofamilial is caused by nutritional inadequacies, medication often has no effect on reducing the disease's course.
  • When that happens, vitamins work well for it. Spinal Ataxia, heredofamilial that can be treated include episodic ataxia type 2 and those brought on by coenzyme Q10 or vitamin E deficiency.
  • Leg spasticity can be treated with medication, and some cerebellar tremors can be treated with medication.
  • For specific spinocerebellar ataxia symptoms, a number of drugs can be employed.

Other treatments

  • You may benefit from speech and physical therapy. To move about, you could also need walking aids.
  • If you experience foot or spine issues, braces and other orthopaedic equipment may be required, as well as surgery.
  • Diabetes and heart disease may be treated with medications.

Vision changes,Loss of hearing,Weak muscles,Lack of reflexes in your legs,Poor coordination or lack of coordination,Speech problems,Involuntary eye movements,Foot deformities, such as clubfoot,Difficulty sensing vibrations in your legs and feet,Trouble in balancing
Heart Disease
Orthopedic surgery,Anti-arrhythmic agents,Anti-cardiac failure medication

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