SERVICES
Delay in basic acquisitions: Episodes of hemiplegia and epileptic seizures disrupt normal development, affecting skills such as holding the head, walking and toileting.
Disturbance of motor skills: Motor skills, particularly fine and precise, are often affected, impacting all learning
Difficulties concentrating: Children have a very poor ability to concentrate, which negatively influences their academic learning
Mood changes: Children may exhibit mood changes such as anxiety, aggression and anger, often linked to seizures
Illness
The consequences are.
Alternating Hemiplegia Syndrome is a disease resulting in numerous more or less varied symptoms.
The complexity of the disease comes from the fact that not all children necessarily present the same symptoms; and in other cases, some children have the same symptoms but at different intensities.
Varied symptoms: Affected children may have different symptoms or varying intensities, even with the same genetic mutation.
Early onset: The first symptoms usually appear before the age of 18 months.
Paroxysmal attacks: Include attacks of dystonia, hemiplegia, and sometimes epilepsy, often triggered by fatigue, emotions, or sensory stimuli.
Neurodevelopmental disorders: Intellectual deficiencies, cognitive disorders and motor difficulties can manifest outside of seizures
Permanent difficulties:
Attacks of hemiplegia or dystonia, motor and mental delays are always present in adolescence and then in adulthood.
They vary from one child, adolescent or adult to another without a correlation being clearly established between the intensity of the attacks and the extent of the developmental delay.
Illness
The symptoms
Like most genetic diseases, Alternating Hemiplegia in Infants is an orphan disease. This means that there are currently no medications to cure this disease.
Unfortunately, rare diseases are very often orphans due to the economic difficulty of developing therapies for a very small number of patients. The extremely limited potential market does not allow the necessary considerable investments to be made.
Most children with this disease take treatments aimed at providing relief during these periods, reducing the intensity of attacks, reducing the frequency and duration of episodes and limiting the after-effects caused.
Let us hope that the discovery of the first gene involved in the disease and that the work of all the Alternating Hemiplegia associations will one day make it possible to find a cure for this disease.
Illness
An orphan disease.
A genetic disease is a disease caused by one or more abnormalities on one or more chromosomes which lead to a malfunction of certain cells in the body. These cells make proteins. The activity and structure of each protein is determined by the genetic information contained in a gene. If the gene is altered, it causes the cell to malfunction, which can be revealed with the expression of a disease.
A so-called “De Novo” mutation (for neo-mutation) is a mutation of the gene appearing in an individual when neither parent has it in their genetic heritage. The mutation therefore occurred in the gametes of one of the two parents, or, more rarely, it can be a post-zygotic mutation, that is to say a mutation of the fertilized egg.
In the context of Alternating Hemiplegia in Infants, 2012 was a pivotal year with the discovery of the first mutated gene implicated in just over 70% of cases: the ATP1A3 gene.
On this same gene, different mutations have been observed. Studies are currently underway to compare the differences in symptoms depending on the mutation observed in people with Alternating Hemiplegia.
This gene codes for the normal functioning of the pump used for the exchange of Sodium and Potassium ions:..
Illness
A “De Novo” genetic disease
ASSOCIATIONS
- ANNABEL
The other children of the world
The rechearch
Alternating Hemiplegia is a rare, genetic neurodevelopmental pathology characterized by recurrent episodes of hemiplegia that generally occur during early childhood.
The prevalence of this disease is estimated at 1 case per 100,000 children under 16 years of age, although this figure may be underestimated due to diagnostic difficulties.
In France, the census of sixty cases seems to reflect a more precise estimate of the national situation, highlighting the importance of better recognition and understanding of this condition to improve the diagnosis and care of patients.
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ILLNESS
Alternating hemiplegia. A rare and painful disease...
THALIA'S Dreams
THALIA'S Dreams
THALIA'S DREAMS
THALIA'S DREAMS
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