Hereditary Ataxia

Did you know ?

There are just around 25,000 neurologists in EU. Some regions are better covered than others: depending on the country, there are between 4 and 13 neurologists per 100,000 people.1

To help you find the best help possible, Concilio’s medical team is by your side to help you find the solution to your medical problems.

What is hereditary ataxia ?

When a responsible gene for hereditary ataxia is passed down by one parent, the ataxia is called “dominant”. This category regroups several types of ataxia, including spinocerebellar ataxia (SCA) and episodic ataxia (EA).

Spinocerebellar ataxia has 36 variations. The classification depends on the age of onset and the zone of the cerebellum affected.

There are 7 different forms of episodic ataxia, which are classified according to paroxysms (paroxysmal attacks) and accompanying symptoms.

When ataxia is caused by a gene passed down by both parents, it is named “recessive” ataxia. There are several types of recessive ataxia, including, Friedreich ataxia, Charlevoix-Saguenay spastic ataxia, and Louis-Bar syndrome (telangiectasia ataxia).

Recessive ataxias

Friedreich ataxia consists of a decrease of energetic production in the body. This disease manifests by clumsiness, instable walking, or speech problems. Among the consequences of Fredereich ataxia are skeletal changes and heart enlargement. In Europe, 1 in 50,000 people suffer from this disease.

Louis-Bar syndrome (telangiectasia ataxia) affects blood vessels and the immune system and induces locomotion problems and blood vessel dilation. This disease affects 1 in 40,000 people in the world.

Charlevoix-Saguenay spastic ataxia manifests by degeneration of the spinal cord. This disease affects people originating from Saguenay-Lac-St-Jean and from Charlevoix in Quebec. 1 in 22 people are afflicted with spastic ataxia in these regions.

Why is it important to obtain the best care when you are ill?

Concilio enables you to access the best healthcare available to you. Our medical team will personally assist you to help you deal with any health issue.

  • In 45% of cases, your diagnosis or treatment plan could be optimized
  • 9 out 10 doctors prescribe unnecessary medical acts: surgery, repeat investigations, non-compliance with recommended best medical practice
  • All hospitals and clinics are not equal. Some are better suited to treating your illness than others.
  • Medicine is becoming more and more specialized. It can be complicated to obtain reliable medical information and ensure you get to see the medical practitioner that’s right for you and your condition

Diagnosis of hereditary ataxia

Detection of hereditary ataxia is carried out by amniotic liquid analysis, amniocentesis, or chorial biopsy. Prevention consists of proposing reproductive choices for one or both parents that are carriers of the responsible gene.

Treatment of hereditary ataxia

Treatment for ataxias depend on their origins. For hereditary forms of ataxia, solutions reside in personalized programs including corsets, or surgery for foot deformation. For Friedreich, prescribing Cantena allows to limit heart enlargement and other symptoms.

Somatic education has also been elaborated to limit degeneration. The Feldenkrais method consists of aiming to increase efficiency and ease of movement. This program is based on coordination and flexibility.

During treatment, several bases allow to observe and monitor the evolution; notably neurological and orthopedic problems. Progress of medical treatment hinges on the collaboration between three specific health professionals: the family physician, the neurologist, and the rehabilitation doctor. Regular debriefings allow to offer solutions and personalize the follow-up program.

Fiche Hereditary Ataxia

  • Author : Florian Reinaud, MD
  • Date :
  • Author of revisions : Amine Morjane, MD
  • Revision date :

1736 peer-recommended neurologists have been identified by Concilio