Conditions mimicking Huntington's Disease (HD) include specific Huntington's Disease-Like Syndromes (HDL1-4), other genetic repeat expansion disorders like SCA17 and DRPLA, neuroacanthocytosis syndromes, brain iron accumulation disorders (e.g., neuroferritinopathy, Fahr's disease), and metabolic conditions like Wilson's disease, all sharing symptoms like chorea (involuntary movements), cognitive decline, and psychiatric issues, often requiring genetic testing for accurate diagnosis.
As the name suggests, HDLs resembles Huntington's disease. HDLs and Huntington's disease are both characterized by uncontrolled movements, emotional problems, and loss of thinking ability. In both conditions these signs and symptoms worsen over time.
Huntington's disease (HD) is a neurodegenerative disorder that primarily affects motor function, cognition, and mood regulation. The neuropsychiatric symptoms of HD, including mood swings, irritability, and depression, are often mistaken for primary psychiatric disorders such as bipolar disorder.
Blood tests, specifically genetic testing, can determine the likelihood of developing Huntington's disease. Additional procedures that may help in the neurological workup may include: Computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan.
Parkinson's disease and Huntington's disease both impact movement and daily life, but they are distinct conditions with different causes and symptoms. Parkinson's disease typically leads to resting tremors and slow movement, while Huntington's disease results in jerky, uncontrolled movements.
The 5-2-1 rule in Parkinson's disease is a clinical guideline to identify when the condition may be considered "advanced," suggesting a need for advanced therapies like Deep Brain Stimulation (DBS) or intestinal gel. It's met if a patient experiences at least 5 doses of levodopa daily, plus 2 or more hours of "Off" time (symptoms return), and/or 1 or more hour of troublesome dyskinesia (involuntary movements) daily, signaling inadequate symptom control.
The most common signs of Huntington's disease include:
Cognitive changes, including difficulty with focus, memory and decision-making. Slower processing of information. Trouble organizing or completing tasks. Mood swings or irritability.
A simple blood test can detect Huntington's Disease. If the disease is confirmed, a neurologist will conduct additional tests, such as an MRI and CT scan. Your doctor will also discuss your family history, complete a medical background and conduct a physical exam.
Analytic validity was high (sensitivity: 99.5%, 95% confidence interval: 97.1–99.9%; specificity: 99.2%, 95% confidence interval: 97.1–99.9%). Repeat length errors occurred in 2.6% (95% confidence interval: 1.8–3.8%) of 1,060 allelic challenges, with most being minor or from a single participant.
Brain-imaging and function tests
These images may reveal changes in the brain in areas affected by Huntington's disease. These changes may not show up early in the course of the disease. These tests also can be used to rule out other conditions that may be causing symptoms.
Common conditions that mimic Parkinson's include Essential Tremor, Normal Pressure Hydrocephalus, Dementia with Lewy Bodies, Multiple System Atrophy, Corticobasal Syndrome, and Progressive Supranuclear Palsy.
Early stage: Symptoms are mild. You might feel more moody, clumsy, or have trouble focusing or planning. You may also have small, uncontrollable movements, but typically, you can continue your everyday activities. Middle stage: Physical and mental changes make working, driving and household chores very difficult.
Progressive supranuclear palsy is a rare brain disease that affects walking, balance, eye movements and swallowing. The disease results from the damage of cells in areas of the brain that control body movement, coordination, thinking and other important functions.
Like ALS, the disease is always fatal, and the rate of progression is highly variable. People generally live with Huntington's disease longer than ALS – generally from 10-30 years. As it progresses, people living with the disease will eventually need round-the-clock care, losing the ability to move and speak.
The gold standard for evaluation is genetic testing, which is targeted testing of the CAG repeat size. A patient with 26 or fewer repeats is not associated with the Huntington disease phenotype.
Symptoms of Huntington's disease
Early symptoms can include: difficulty concentrating and planning tasks. memory problems. low mood, depression and anxiety.
Summary. A small number of people having a test for HD will have a result which falls into the 'gray area' area of intermediate alleles and reduced penetrance. Someone with an intermediate allele (27-35 CAG repeats) will not develop HD.
The most effective and accurate method of testing for HD—called the direct genetic test—counts the number of CAG repeats in the HD gene, using DNA taken from a blood sample. The presence of 36 or more repeats supports a diagnosis of HD.
During May, buildings, monuments, and statues are usually lit up in blue and purple, blue to raise awareness of Huntington's disease, and purple for juvenile Huntington's.
The Huntington genetic test is a blood test to check for the genetic disease. If you have a family member who has Huntington disease, their blood usually is tested first to identify the changed gene that might run in your family. Then you give a blood sample, which is screened for the gene change.
Solvents: Trichloroethylene, a solvent, has been used in many industrial settings, such as metal degreasing and dry cleaning, and in paint thinners and detergents. Some studies have shown a link between long-term exposure to solvents and development of Parkinson's.
The four cardinal motor symptoms are:
Actor Michael J. Fox had holes drilled into his brain as part of his treatment for Parkinson's Disease, according to one of his doctors. Allan Ropper, professor of neurology at Brigham and Women's Hospital, is quoted.