How fast does huntington progress

Registered in England NO. Search for:. In the early stages, symptoms include: Mood changes, particularly depression and difficulty in finding joy or interest in things. Memory problems which are significantly worse than normal forgetfulness.

Altered gait, seeming clumsy or bumping into things when walking. Reduced ability to focus or concentrate. Stage 2: Early Intermediate Stage Problems with memory, cognitive ability, mood and behaviour mean that some support may begin to be required for normal activities. Occupational therapy Occupational therapists help people find adaptations to continue living independently or to find the right support for their progressing disease.

Lifestyle Although the condition is always progressive and degenerative, there is some evidence that staying otherwise fit and active helps symptoms stay milder for longer. Search Site. This segment is made up of a series of three DNA building blocks cytosine, adenine, and guanine that appear multiple times in a row.

Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein.

The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease. This condition is inherited in an autosomal dominant pattern , which means one copy of the altered gene in each cell is sufficient to cause the disorder. An affected person usually inherits the altered gene from one affected parent.

In rare cases, an individual with Huntington disease does not have a parent with the disorder. As the altered HTT gene is passed from one generation to the next, the size of the CAG trinucleotide repeat often increases in size.

A larger number of repeats is usually associated with an earlier onset of signs and symptoms. This phenomenon is called anticipation. People with the adult-onset form of Huntington disease typically have 40 to 50 CAG repeats in the HTT gene, while people with the juvenile form of the disorder tend to have more than 60 CAG repeats.

Individuals who have 27 to 35 CAG repeats in the HTT gene do not develop Huntington disease, but they are at risk of having children who will develop the disorder. As the gene is passed from parent to child, the size of the CAG trinucleotide repeat may lengthen into the range associated with Huntington disease 36 repeats or more.

Genetics Home Reference has merged with MedlinePlus. Symptoms may include minor involuntary movements, subtle loss of coordination, difficulty thinking through complex problems, and perhaps some depression, irritability, or disinhibition. In middle stage HD, individuals lose the ability to work or drive and may no longer be able to manage their own finances or perform their own household chores, but will be able to eat, dress, and attend to personal hygiene with assistance.

Chorea may be prominent, and people with HD have increasing difficulty with voluntary motor tasks. Also, delineation of the typical disease progression may assist in the evaluations of therapeutic agents during clinical trials. The following analysis was designed to delineate the progression of the motor, cognitive, and emotional symptoms in the early and middle stages of the typical HD prodrome using the largest reported sample of individuals affected with HD to date.

The HD Roster has been collecting data for more than 20 years and is the largest available database of detailed information on families affected by HD. Although DNA analysis has not been completed on the HD Roster families, detailed family and clinical information is available. The AQ is typically completed by a close relative of the affected individual, such as a spouse or child, and provides information on the demographics, age at onset, initial symptoms, disease progression, treatment, living situation, and clinical, social, and psychiatric histories.

One portion of the AQ includes 2 tables listing a total of 19 physical and mental signs commonly thought to occur during disease progression Table 1. The respondent indicates if each of the symptoms occurred and, if so, how long after the onset of disease the symptoms appeared: 1 within 1 year, 2 within 2 to 5 years, 3 within 6 to 10 years, 4 after more than 10 years, 5 has not occurred, or 6 "don't know.

However, many of these individuals were diagnosed as having HD very recently and thus have not experienced the majority of the symptoms that we sought to delineate. Consequently, to describe the typical HD prodrome, our sample included only those individuals 1 who had disease onset at least 6 years before questionnaire completion; 2 who had the typical adult-onset choreic form of HD; and 3 whose AQ was completed by a first-degree relative or spouse of a first-degree relative to ensure that the respondent was sufficiently familiar with the patient's symptoms to accurately delineate disease progression.

A total of individuals were included in the final analysis of the AQ data. These data include individuals whose disease onset occurred more than 10 years before completion of the AQ. To delineate the progression of the 19 physical and mental signs of HD, the proportional odds model, 26 a regression model for ordinal data, was used to analyze the AQ data.

For each of the individual 19 signs, the 3 responses were 1 within 1 year, 2 within 2 to 5 years, and 3 within 6 to 10 years. The goal of these analyses was to delineate the progression of symptoms in the early and middle stages of HD, as the progression of symptoms in these stages remains ambiguous, while the disease progression in the later stages of HD is fairly well characterized.

Also, requiring the participants to have manifest HD for more than 10 years dramatically reduces the sample size; therefore, the responses for the category of after more than 10 years were not used in the analysis.

For each symptom, the model uses the number of responses in each of the 3 periods to calculate a cumulative probability of the symptom occurring. A logarithmic function of these cumulative probabilities is used to calculate slope estimates for each individual symptom, which can then be compared directly with one another, allowing the ordering of the symptoms. Larger slope estimates imply an earlier onset, while the symptoms with smaller slope estimates occur later in disease progression.

Although the results of the analysis order each of the 19 symptoms, these symptoms may actually occur simultaneously or at about the same time. Also, variability in symptom onset was observed between individuals. A modified Bonferroni multiple comparisons test was 27 used to determine which of the 19 slope estimates were significantly different from each other, thereby grouping symptoms that develop at approximately the same time in disease progression.

The demographics for the participants are presented in Table 2. The participants were primarily white The individual responses for each category of the AQ are presented in Table 3.

As described in the "Participants and Methods" section, the results are based on the cumulative probabilities for 3 response groups according to when the symptoms occurred during the course of the disease: 1 within 1 year, 2 within 2 to 5 years, and 3 within 6 to 10 years.

After the use of the proportional odds model, the modified Bonferroni multiple comparisons test was used to categorize the symptoms into 6 onset periods termed initial , early , early-middle , middle , middle-late , and late Figure 1.

Involuntary movements were grouped alone as the earliest reported symptom. The second group of symptoms, which occur early in disease progression, after involuntary movements, consists of a group of clinical findings that are composed entirely of mental and emotional symptoms, including sadness, depression, and difficult to get along with. The majority of individuals in the sample reported these symptoms as occurring less than 5 years into disease progression, equally represented between the withinyear category and the 2-toyear category.

A larger percentage of individuals reported these symptoms as occurring 2 to 5 years after HD onset. These middle-disease symptoms include motor difficulties that interfere with functional activities, such as unsteadiness, trouble holding onto things, and trouble walking. In addition to the motor symptoms, affected individuals experience changes in sleeping patterns and delusions or hallucinations.

Cognition also begins to deteriorate, leading to intellectual decline and memory loss. The symptoms in this middle-disease range were reported to develop in the 2- to 5-year and 6- to year range in approximately equal percentages. In the middle- to late-disease stage, affected individuals begin to experience speech difficulty and weight loss.