Although they are often nonverbal and bedridden in the end stages, it is important to note that people with HD seem to retain some comprehension.
Chorea may be severe, but more often it is replaced by rigidity, dystonia, and bradykinesia. Psychiatric symptoms may occur at any point in the course of the disease, but are harder to recognize and treat late in the disease because of communication difficulties. Autosomal dominant inheritance pattern Open pop-up dialog box Close. Autosomal dominant inheritance pattern In an autosomal dominant disorder, the mutated gene is a dominant gene located on one of the nonsex chromosomes autosomes.
In vitro fertilization Open pop-up dialog box Close. In vitro fertilization During in vitro fertilization, eggs are removed from mature follicles within an ovary A. Share on: Facebook Twitter. Show references AskMayoExpert. Huntington Disease.
Mayo Clinic; Huntington's disease: Hope through research. National Institute of Neurological Disorders and Stroke. Accessed Feb. Ferri FF. Huntington disease. In: Ferri's Clinical Advisor Elsevier; A physician's guide to the management of Huntington's disease.
Huntington's Disease Society of America. National Library of Medicine. Genetics Home Reference. Suchowersky O. These symptoms typically occurred 6 to 10 years after disease onset, but in many individuals were delayed until more than 10 years after onset.
Late in the disease, individuals lose bowel and bladder control Table 3. Even though the symptoms that occur with HD are fairly well characterized, the progression of symptoms, especially in the early and middle stages, remains uncertain. Clarification of the sequence of symptom presentation is useful in determining the efficacy of therapeutic agents that are designed to delay the progression of symptoms and helpful when counseling families and mildly affected individuals.
The literature contains conflicting reports indicating that, in some instances, emotional and cognitive symptoms precede the onset of motor symptoms, while others report chorea as the presenting symptom.
According to our analyses, involuntary movements and behavioral symptoms such as sadness, depression, and irritability characterize the first year after disease onset in some individuals, while others begin experiencing these symptoms 2 to 5 years after onset.
Following these initial personality changes, approximately 2 to 5 years after the onset of HD, the affected individuals experience additional emotional symptoms, such as suspicion, lack of motivation, changes in sleeping patterns, and sexual problems, along with worsening motor control, leading to clumsiness. The cognitive decline in this sample is reported to occur after these personality changes and concomitant with further motor decline in the middle stage of disease progression.
The symptoms that occur later in disease progression are, as expected, speech difficulty, weight loss, and incontinence.
Previous studies have suggested that HD presentation may not be homogeneous and that although the majority of cases may begin with motor disturbance, a subset of individuals may have a period of cognitive or emotional difficulties before the onset of motor abnormalities.
To determine if our sample was heterogeneous, the data reported by individuals who stated that they had experienced cognitive or emotional symptoms in the first year were examined. In addition to the examination of frequency data, the proportional odds model was rerun. Similar patterns in symptom presentation were observed for all subgroups, and there was no evidence supporting heterogeneous disease progression early in HD. In our previous analyses of presymptomatic gene carriers, subtle cognitive deficits were found before the onset of obvious motor abnormalities on clinical examination.
Thus, cognitive deficits might be reported only in the later stages of disease as global dementia worsens and the deficits interfere with daily activities.
The response rate was good for all symptoms except the more personal ones: sexual problems, change in sleeping patterns, and delusions and hallucinations Table 3. The response rate for these more personal symptoms would be expected to be lower, as relatives rather than the participants completed the surveys. Also, since the participants were required to be a minimum of 6 years from disease onset, some symptoms that are expected to begin very late in the disease, such as weight loss, speech difficulty, and bowel and bladder problems, have not yet been observed by many participants.
Therefore, the data collected on these late-onset symptoms show a large percentage of responses indicating that the affected individual does not have the symptom, when the symptom simply may not have developed yet.
These factors could lead to a misleading representation of disease progression through our questionnaire method. However, by collecting these data from a variety of relatives, most with intimate association with the patient's disease, we hope to have reduced the impact of nonresponsiveness and lack of awareness of particular symptoms.
In addition, greater variability in the response data was introduced through the collection method, since the sequence of symptom appearance was obtained through family report and not through direct clinical examination. Data collected through repeated examinations presymptomatically and throughout disease progression would result in more accurate data. However, longitudinal data on such a large sample of individuals with HD are not currently available, and our sample has provided important clinical information.
The size of the sample allows us to make generalizations regarding the typical HD prodrome. The progression of HD reported herein provides the clinician with the general disease progression as observed by individuals affected with HD and their family members.
This information can be used when counseling individuals and families regarding the expected progression of HD. Also, this sample confirms the importance of careful assessment by the clinician to fully evaluate disease symptom and progression. To evaluate the efficacy of therapeutic agents that are designed to delay or prevent HD progression, measures that are sensitive to motor and cognitive function and behavior abnormalities that are specific to HD must be used in the clinical setting.
We thank Jacqueline Gray for insightful comments and assistance with the manuscript. Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy Continue.
View Large Download. Table 1. Table 2. At this stage, motor symptoms are not debilitating. Most individuals in the early stage are fully functional at home and at work, and usually maintain typical pre-disease levels of independence when it comes to everyday activities such as finances, home responsibilities, and activities of daily living such as eating, dressing, and bathing.
Mild cognitive symptoms and psychiatric changes may begin to occur among individuals at this disease stage. During this stage, patients begin to experience impairments in day-to-day living. For instance, people in the early intermediate stage may be able to do their job, but at a lower capacity. Individuals at this stage may find that some daily activities are more difficult, and may require assistance with some aspects of daily tasks. Chorea , which is irregular involuntary movement in multiple areas of the body, may become more severe at this stage.
The late intermediate stage usually lasts between five and 16 years from disease onset.
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