Rare neurological diseases (RNDs) : what are they ?

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.

Introduction

Different types of rare diseases are found in neurology, including myasthenia, cerebellar ataxias, and Huntington’s disease.

Cerebellar ataxias

Cerebellar ataxias are a form of ataxia originating in the cerebellum. Cerebellar ataxias are the result of diverse disease processes and can occur in various forms and severities, including acquired ataxia, hereditary ataxia, and idiopathic ataxia. Symptoms of cerebellar ataxias, such as muscular incoordination, can be observed at all ages.

The main signs of the disease include disorders of the joint, repetitive and/or uncoordinated eye movements, and unsteady gait. Deficits are observed with movements on the same side of the body as the lesion (ipsilateral).

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

Huntington’s disease

Huntington’s disease is a degenerative and hereditary disease which causes the destruction of neurons in the subcortical area (located below the cortex). It is linked to an anomaly discovered on chromosome 4.

This neurological condition combines cognitive deterioration as well as mental disorders with involuntary and disordered muscle movements (chorea). This rare disease affects about one in 10,000 people.

Myasthenia

Myasthenia gravis is a rare autoimmune disease that causes muscle weakness that increases with effort. This weakness gradually decreases at rest. It affects subjects of all ages, but especially young women as well as men between 50 and 60 years old.

It is due to a disruption of the immune system that produces antibodies at the neuromuscular junction, that is to say the area of ​​contact between the nerve and the muscle. Antibodies are either directed against acetylcholine receptors that trigger muscle contraction or are directed against other components of the neuromuscular junction such as the muscle tyrosine kinase receptor or the LRP4 receptor.

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

1736 peer-recommended neurologists have been identified by Concilio