Due to its low incidence in the world population, around one case for every 15,000 to 30,000 births. It is a genetic alteration that causes a disorder at the nervous system level, mainly producing learning, development, and motor coordination problems. However, these can be controlled with proper treatment.
It is essential to clarify that although it is a genetic disease, it is mostly not inherited. The few cases are due to a mutation since it is a random alteration that can occur at the beginning of the formation of reproductive cells or embryonic development. If you want more information about Angelman syndrome: causes, symptoms, and treatment, FastlyHealwe offers more details.
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Causes of Angelman syndrome
Both parents transmit chromosomes in equal measure and copy. Still, the absence or alteration of the maternal copy of the UB3A gene, part of chromosome 15, causes the genetic information it contains not to be expressed. This gene in the maternal copy is involved in activating a protein essential for the nervous system to develop and function properly, which is why failure to do so causes Angelman syndrome. This genetic disease can be driven mainly by:
- Loss of a fragment of chromosome 15, when broken, cannot activate its functions. It is the most frequent cause, occurring in 70% of cases, and represents the condition with the most severe symptoms.
- Paternal uniparental disomy transmits two paternal copies of chromosome 15 and not one for each parent. It is not very common for it to happen, it represents approximately 4% of cases, and the effects are minor, especially in development and motor coordination.
- Mutation of the maternal UBE3A gene, this alteration does not correspond to the gene’s activation mechanisms, which causes problems in the nervous system. Its frequency is 3% to 5% of cases, and the symptoms are less severe.
- Unknown cause, in several of the issues, it is impossible to determine the cause of Angelman syndrome since they do not present any genetic defects known for the disease.
Angelman syndrome: symptoms
Although it is a disease that is born with, it is not possible to detect this syndrome in a newborn, but it is until around 6 to 12 months of life that the alterations begin to appear. However, it is after three years of age when the typical symptoms are most noticeable, and the symptoms of Angelman syndrome can be classified as:
Symptoms of the total occurrence
- Shows developmental delay.
- The ability to speak is absent or reduced. Communication is usually based on gestures and signals.
- She pays little attention to things around him or what is being said to him.
- It presents ataxia, that is, problems in the coordination of movement and balance, frequently with clumsy, unsteady, and hesitant walking or with a slight tremor in the extremities when moving.
- It exhibits excitable behavior of joy, maintaining laughter, laughter, or smiles most of the time, sometimes accompanied by a movement of the hands.
- There is hyperactivity, which has a very active behavior and cannot stay still.
- There is slow learning and little ability to interact with others.
- It presents microcephaly, which consists in that the size of the head is smaller than average, becoming more evident at approximately two years of life.
- There are sudden episodes of epilepsy, they begin to appear around three years of age, and the seizures decrease in intensity as the years’ progress; however, they prevail in adulthood.
- Changes occur in the electroencephalogram.
Associated or rare symptoms
- It has a flat occiput, that is, the back and lower part of the head is flat.
- You develop strabismus, known as crossed eyes, in which the eyes are not aligned and do not go in the same direction.
- It presents an incomplete growth of the upper jaw, being shorter than the lower jaw, giving an appearance of a prominent jaw.
- It exhibits macrostomia, overdevelopment of the mouth, or the extension of the corner of the mouth.
- It has a protruding tongue.
- There is difficulty in sucking or swallowing food.
- There is drooling very frequently.
- Presents scoliosis, which indicates a spine malformation with a curvature in the shape of an S or C.
- You suffer from sleep disturbances with short sleep-wake cycles due to a reduction in the need for sleep.
- He is fascinated with water and attracted to crunchy things like papers or plastics.
- Increases sensitivity to the sun and heat.
- It suffers from low pigmentation in the skin and the eyes. It can be in a variable degree.
Treatment for Angelman syndrome
Angelman syndrome is not curable so it will be present throughout the affected person’s life. Still, it is possible to reduce and control the symptoms with a series of treatments and thus improve development and quality of life. For this, immediate attention is necessary. It would help if you went to the doctor to analyze the symptoms and the general state of health of the child and thus give the correct treatment since these are personalized.
For some symptoms, treatment with drugs is necessary, including those that block how seizures occur, the supply of sleep stimulators, drugs that regulate the mechanism that causes hyperactivity, the application of toxins that inhibit involuntary movements in certain muscles, among other specific medications for the condition suffered. In addition, if necessary, surgical intervention or orthopedic equipment will be used to correct malformations.
Also, the intervention of physiotherapists or kinesiology procedures is essential to stimulate the psychomotor capacity and resolve the possible effects on movement, balance, and walking. On the other hand, speech and support therapies, such as hydrotherapy and music therapy play a fundamental role in the personal and social development of the child with Angelman syndrome. These will be under the guidance of specialists, who will also give instructions on exercises that can do at home. This personalized treatment involves various techniques for better learning and solving communication problems.
Angelman syndrome: life expectancy
Both puberty and menstruation arrive regularly, and people affected by this syndrome have complete sexual development. In most cases, adults can lead more or less autonomous lives, for example, eating with a knife and fork on their own. On the other hand, if symptoms are controlled, life expectancy is expected, although a certain tendency to be overweight has been identified in women.
This article is merely informative. At FastlyHeal .com, we do not have the power to prescribe medical treatments or make any diagnosis. We invite you to see a doctor if you present any type of condition or discomfort.
If you want to read more articles similar to Angelman Syndrome: causes, symptoms, and treatment, we recommend that you enter our Genetic Disorders category.
I am a Surgeon with a diploma in comprehensive ultrasound and surgical care residency, an area I am specializing in. During the exercise of my profession, I have realized the need for patients to know the diseases they suffer, and I can tell you that a large part of their complications is due to a lack of information. Being a health web writer allows me to transmit my experience, without borders, to all those readers eager for knowledge, educate them in the prevention of diseases and promote a healthy lifestyle.