Huntington’s disease is an inherited pathology that causes the wasting 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 the beginning, symptoms include uncontrolled movements, clumsiness and balance problems. Later on, other symptoms appear, such as walking, speech and swallowing impairment. Some patients no longer recognize their relatives and others are aware of their surroundings and can express their emotions.
If one of the parents has Huntington’s disease, their child will have a 50% chance of having it. A blood test can tell whether a person has the gene and whether he or she will develop the disease. There is no cure, but there are medications that can help control some symptoms, although they cannot slow or stop the disease.
The type and severity of cognitive and communication problems vary from patient to patient. Although many things may seem similar, no two people with Huntington’s disease are exactly alike. In almost all cases the sufferer will experience the same difficulties throughout the course of the disease and the 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 jaw (dysarthria). In addition to decreased speech rate, problems with volume, to coordinate or to breathe. It is also difficult for them to express themselves correctly or pronounce well. And difficulty understanding, reading and writing.
– Cognitive problems. Decreased immediate and short-term memory, 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 swallowing liquids or food and chewing, inability to swallow. Lack of coordination between swallowing and speaking or breathing, need to swallow repeatedly for each swallow or mouthful. Drooling or spilling of food or liquids from the mouth.
Some of these symptoms seem to be unrelated to this disease, so they should be closely observed by a physician and seek 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 testing. These tests may be performed before a person exhibits any symptoms to determine if he or she is a carrier of the gene.
Treatment for Huntington’s disease
This disease can only be palliated, there is 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 as comfortable a life as possible. Behavioral patterns can be exercised that can be used later, when the disease progresses, as well as including alternative language devices such as slates or computers.
On communication, the specialist can teach the patient to speak more slowly, repeat the word or sentence when necessary, rephrase the sentence, exaggerate sounds, speak louder (inhaling deeply before speaking), describe what he/she is trying to say if he/she cannot think of the precise word, indicate the first letter of the word, use gestures, keep sentences short, use alternative techniques such as word, alphabet or picture boards or use electronic devices.
Family members can help by eliminating distractions such as television, radio or large groups of people. Keep questions and expressions simple, asking only one question at a time. Ask yes or no questions whenever possible. Pay attention to gestures and facial changes and expressions, ask for clarification or repeat in the form of a question what you think has been said, try to talk about familiar topics, allow the person to take enough time to communicate his or her message. And, most importantly, be patient with the speaker.
Tips for family members of people with Huntington’s Disease
– Cognitive problems. For frequent disorientation, it is advisable to keep a calendar, keep a watch in sight and name things.
– Memory problems. Family members can make a poster of what is done daily, establish guidelines for where things are always left, label things, use a diary to ask questions, and have written solutions to common problems.
– Help with swallowing
Offer small bites and sips, make sure the person is sitting as upright as possible, place a pillow to prevent the person’s head from tilting back, monitor the rate at which the person eats food. Observe the up and down movement of the larynx (Adam’s apple), or lightly place two fingers on the person’s Adam’s apple to detect this movement and try to determine if the person has finished swallowing. Make sure the person swallows twice for each mouthful or sip to completely remove any residue left in the mouth.
Use sauces, dressings, and condiments with dry or solid foods whenever possible. Crush medications and mix them with food, avoid distractions during the eating process, do not allow the person to talk if there is food in the mouth. If he or she is coughing a lot or showing other symptoms of swallowing problems, offer thick liquids such as nectars and smoothies. Also give blenderized foods until he/she can see a doctor or speech-language pathologist. Limit the amount of food placed on the plate at one time or the amount of liquid in the glass.
Occasionally if the severity is extreme, intravenous and catheterization methods may be needed.