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Friedreich’s ataxia: damage to the nervous system

Friedreich’s ataxia or Friedreich’s ataxia is an uncommon, hereditary, slowly progressive neurodegenerative disorder. Neuro refers to nerve cells, degeneration indicates progressive damage. The first symptoms usually occur between the ages of ten and fifteen, such as difficulties with coordinating movements and muscle weakness. Both boys and girls can be affected by the hereditary condition. What causes Friedreich’s ataxia and what are the treatment options?

Article content

  • Friedreich’s ataxia
  • Other names for Friedreich’s ataxia
  • Who affects Friedreich’s ataxia and how often?
  • Heredity
  • Causes
  • Symptoms
  • Diagnosis
  • Hereditary deficiency of vitamin E
  • Therapy
  • Prognosis
  • Expertise centers in the Netherlands

 

Friedreich’s ataxia

The condition is named after Nikolaus Friedreich (German pathologist and neurologist). He was the first person to describe the condition, around 1860.

Other names for Friedreich’s ataxia

  • FA
  • FRDA
  • Friedreich ataxia (FA)
  • Friedreich’s ataxia
  • Friedreich’s disease
  • Hereditary spinal ataxia
  • Hereditary spinal ataxia
  • Hereditary spinal ataxia
  • Spinocerebellar Ataxia, Friedreich
  • Hereditary spinal sclerosis
  • Hereditary Spinal Sclerosis

 

Who affects Friedreich’s ataxia and how often?

Friedreich’s ataxia is uncommon; it is estimated that one in fifty thousand people is affected by Friedreich’s ataxia. It occurs in both boys and girls.

Heredity

It is a hereditary disease, there is an error in a gene on chromosome 9. Friedreich’s ataxia is inherited in an autosomal recessive manner. Autosomal means that the hereditary predisposition can occur in both men and women, the cause is not on the sex chromosomes but on one of the general chromosomes. In autosomal recessive inheritance, the person’s father and mother carry the diseased gene, but they do not have the condition because the healthy gene compensates for the diseased gene. With recessive inheritance, there is a 25 percent chance of developing the condition and a 50 percent chance of becoming a carrier.

Causes

This error in the gene means that the body does not make enough of a certain protein (frataxin) and this causes cells in the spinal cord, cerebellum and nerve pathways to become affected. Spinal cord and nerves transmit information to the cerebellum that controls movements in the body. If there is Friedreich’s ataxia, the cerebellum cannot perform its tasks properly and there is no control over movements and muscles. Cells in the heart and, for example, the pancreas can also be affected.

Symptoms

The first symptoms

Symptoms that you can observe early in the disease process are an uncertain gait, problems with maintaining balance, falling more quickly, dropping things more quickly and the handwriting may appear messy.

Symptoms that may occur later

Other symptoms may appear later, such as slurred speech. Speaking softer, pronouncing words less clearly and the voice may change in loudness and speed. There may also be nystagmus: the eyes dart back and forth quickly. Furthermore, the feeling in the hands and legs may decrease and the feet may feel colder.

Later still

Muscle strength decreases because the nerves have increasing difficulty in transmitting commands to the muscles. This can, for example, lead to scoliosis (abnormal curvature in the spine). A person is more likely to develop scoliosis if Friedreich’s ataxia started before the age of ten. There is also a risk of developing arch feet: the opposite of flat feet. Swallowing can be more difficult, which can lead to choking. Vision and hearing may deteriorate, the heart muscle may become weakened and diabetes mellitus may occur. If someone suffers from a weakened heart muscle, this can manifest itself in a painful feeling in the chest and palpitations can occur. There is a risk of heart failure.

Diagnosis

If the symptoms are reminiscent of Friedreich’s ataxia, a GP should be visited and a referral will follow to a neurologist. This person will perform a physical examination, genetic research will be done, the blood sugar level will be determined, and an ECG (electrocardiogram or heart film) will be made. Visual acuity may be measured and a CT scan or MRI scan of the cerebellum and spine may be made.

Hereditary deficiency of vitamin E

A hereditary deficiency of vitamin E can cause the same symptoms as Friedreich’s ataxia. It is therefore important to check this, as a hereditary deficiency of vitamin E can be properly treated.

Therapy

To date (2016), Friedreich’s ataxia cannot be cured. The treatment is aimed at reducing the complaints. Practitioners who can help include, for example, a physiotherapist to explain how the limbs can be used better, and an occupational therapist can look at which aids can be used and which adjustments can help. If someone suffers from problems with speech, a speech therapist can provide advice. An orthopedist can help with scoliosis or a hollow foot, for example. If you have vision problems, see an ophthalmologist, if you have hearing problems, see an ENT specialist. It is also important to receive information about heredity; the clinical geneticist is the right person for this. If the diagnosis is made, it can lead to a major shock. Psychological support is very important, help from a psychologist. Not only for the person himself, but also for his or her loved ones.

Prognosis

The symptoms gradually get worse. How Friedreich’s ataxia develops can differ per person. However, it is generally the case that the younger someone develops complaints, the more serious they are and the faster the deterioration can occur. Life expectancy depends on several factors: how serious are the problems with movement, how is the functioning of the heart and lungs.

Expertise centers in the Netherlands

UMCG

Movement Disorders Groningen/Movement Disorders Groningen (in the UMCG). This involves scientific research, but also top clinical care and education in the field of neurological movement disorders in children and adults. The expertise center receives referrals from the Netherlands, but also from other European countries.

Radboud UMC

Outpatient clinic for hereditary movement disorders. People who are suspected of having hereditary ataxia, Parkinson’s disease, Huntington’s disease or another hereditary movement disorder can go here. This involves a conversation with a neurologist and a clinical geneticist. It may be decided to have genetic research done. If the result is abnormal, information about heredity can be provided.

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