Huntington's disease is an inherited pathology that causes the wear of some nerve cells in the brain. According to specialists , people born with this defective gene have no symptoms at birth, but appear after 30 or 40 years of age. At first the symptoms include uncontrolled movements, clumsiness and balance problems. Later others appear as an impediment when walking, talking and swallowing. Some patients stop recognizing their relatives and others are aware of what surrounds them and can express their emotions.
If a parent has Huntington's disease, their child will have a 50% chance of having it. With a blood test you can know if a person owns the gene and if it will develop the disease. There is no cure, but there are medications that can help control some symptoms, although they can not delay or stop the disease.
The type and severity of cognitive and communication problems vary according to the patient. Although many things may seem similar, no two people with Huntington's disease are exactly alike. In almost all cases the patient will experience the same difficulties throughout the course of the disease and their severity will vary from stage to stage.
Symptoms of Huntington's Disease
Some of the most common symptoms are:
- Communication problems. Patients have muscle weakness, slowness or lack of coordination of the lips, tongue, throat and mandible (dysarthria). In addition to decreased speech rhythm, problems with volume, to coordinate or breathe. It is also difficult for them to express themselves correctly or pronounce well. And difficulty understanding, reading and writing.
- Cognitive problems. Immediate and short-term memory loss, reduced ability to solve problems, difficulty in organizing ideas, concentration problems, decreased ability to learn new things and problems with numbers and mathematical calculations.
- Impulsivity when eating. Difficulty controlling the speed of ingestion of liquids or food and chewing, inability to swallow. Lack of coordination between the swallowing and talking or breathing process, need to swallow repeatedly for each gulp or snack. Drooling or spilling of food or fluids from the mouth.
Some of these symptoms appear to be unrelated to this disease, so they should be closely monitored by a physician and require evaluation by a speech and language specialist (a speech therapist, speech therapist, speech therapist, or speech therapist).
Diagnosis of Huntington's Disease
It is diagnosed by genetic and neurological tests. These tests can be done before the person exhibits any symptoms to determine if they are carriers of the gene.
Treatment for Huntington's Disease
This disease can only be palliated, it has no cure. The speech therapist, as a language specialist, is essential in the early stages of the disease, and will subsequently help the patient to maintain a life as comfortable as possible. Behavior patterns can be exercised that can be used later, when the disease progresses, in addition to include alternative language devices such as whiteboards or computers.
On communication, the specialist can teach the patient to speak more slowly, repeat the word or sentence when necessary, reformulate the sentence, exaggerate the sounds, speak louder (inhaling deeply before speaking), describe what he is trying to say If you can not think of the precise word, indicate the first letter of the word, use gestures, keep sentences short, use alternate techniques such as word, alphabet or figure boards or use electronic devices.
Relatives can help by eliminating distractions such as television, radio or large groups of people. Keep questions and expressions simple, ask only one question at a time. Make, whenever possible, questions that can be answered yes or no. Pay attention to gestures and changes and facial expressions, ask for clarification or repeat as a question what you believe has been said, try to talk about family issues, allow the person to take the time to communicate his message. And, most importantly, be patient with the speaker.
Action Tips for Families of People Affected by Huntington's Disease
- Cognitive problems. In frequent disorientations it is advisable to keep a calendar, have a watch in sight and put the name of things.
- Memory Problems. Family members can make a poster with what is done daily, establish guidelines from where things are always left, put tags, use a diary where they ask questions and have written solutions to the most common problems.
- Helps swallow
Provide snacks and small sips, make sure that the person is sitting as straight as possible, put a pillow to prevent him tilting his head back, controlling the step to which the person eats food. Observe the upward and downward movement of the larynx (Adam's apple), or lightly place two fingers over Adam's Adam's apple to detect this movement and try to determine if he has finished swallowing. Make sure the person swallows twice for each bite or sip to completely remove residue left in the mouth.
Use sauces, dressings and condiments with dry or solid foods whenever possible. Shred medicines and mix them with food, avoid distractions during the feeding process, do not allow the person to talk if they have food in their mouths. If you are coughing or showing other symptoms of swallowing problems, offer thick liquids such as nectars and shakes. Also give him / her liquid foods until he can see the doctor or speech and language pathologist. Limit the amount of food that is placed at a time on the plate or the amount of liquid in the glass.
At times if the severity is extreme it will need intravenous and probing methods.