Letâ€™s discover the illness of Unverricht Lundborg
Unverricht Lundborg : What is it ?
The illness of Unverricht Lundborg is a rare genetic illness.
Dr Unverricht noticed it in Estonia at the end of the nineteenth century.
Then Dr Lundborg studied it in Sweden.
Not before 1989, the researchers gave it its name : Unverricht Lundborg.
As soon as 1998, the researchers succeeded in demonstrating a deficiency in Cystatine B, a protein of cellular protection which particularly interferes with the life of nervous cells. Researches about the link between this protein and the symptoms are in progress.
In France, one hundred affected people have been registered and there are numerous patients all around the world.
Numerous cases obviously remain unknown and some patients cannot get to the most specialised centers where the diagnosis of MUL* could be confirmed.
What are the symtoms of MUL ?
Itâ€™s a progressive illness that starts with unrestrained jerks (= Myoclony that disturbs movements) particularly in the morning on waking-up, altogether with eventual apileptic crisis.
This illness occurs during childhood (from 6 to 12 years of age).
Symptoms are used to get worse through adolescence and during early adult life till they stabilize.
Affected patients sometimes lack in hability as far as keen movements are concerned.
But most often thez have servious difficulties in walking as well as feeding and expressing themselves or carrying out everyday life tasks.
MUL doesnâ€™t mean a dicrease in intellectual skills, neither is a fatal disease.
This illness is often very serious.
It is almost always a handicap, but some patients may sometimes be less seriously affected.
Most of them will neverthless need an important help and a possibility heavy treatment.
What are the treatments in progress ?
The present treatment associates several medecines in order to fight against the symptoms of the illness.
Results are imperfect. Psychological help and physiotherapy are essential.
The patientsâ€™environment must be adapted to their handicap : easy access for wheelchairs, creation of handrails to help walking along corridorsâ€¦
Recent improvements have lately opened new opportunities for treating MUL.
Electric intracerebral stimulations is one way to be gone through.
Some treatments which are meant for correcting up-at cellular level.
The genetic abnormality are being developped.
Theyâ€™ll enable to make up for the lacking protein (Cystatine B) which is essential for a normal cerebral working order.
What are the objectives of the Association AMARMYUL ?
AMARMYUL is an association of volunteers created by patients with the advice of Doctor Genton, a neurologist at Henri-Gastaut Hospital, in Marseille.
It has several aims :
- Help a large public as well as health professionals know this genetic illness.
- Register the known cases and improve exchanges and meetings between isolated patients.
- Back medical research up.
- Take care of patients and improve their situation on the medical and administrative levels.
- Create a better link between the various initiatives for better knowledge and mutual solidarity.
What are its actions ?
- Pay attention to the latest discoveries. Pass them on and make them accessible to a large audience.
- Help, listen and give advice to families.
- Take part in meetings which deal with "rare illness".
- Create an internet web-site particular to AMARMYUL.
- Spread a detailed medical booklet.
As soon as require, youâ€™ll be delivered a fiscal receipt in order to help you take off this amount from your taxable income.
The illness of Unverricht Lundborg is no longer as secret as it used to be.
Genetic research should soon lead to an improvement as far as the patientsâ€™condition is concerned.
The role of such an association as AMARMYUL is to encourage clinical staffs, researchers and public authorities to boost the improvements which are already in progress and to get more involved in this rare pathology.
HELP US BACK PATIENTS UP MAKE PEOPLE KNOW THE ILLNESS OF UNVERRICHT LUNDBORG
AMARMYUL is member of :
Alliance Maladies Rares
* MUL : illness of Unverricht Lundborg