Pickleball-Related Eye Injuries
Pickleball-related eye injuries are on the rise due to the sport’s rapid growth in the United States, especially among adults aged 50 and older
Huntington’s Disease
Huntington’s disease is an inherited, progressive brain disorder that causes uncontrolled movements, changes in thinking, and emotional or behavioral problems. It is caused by a mutation in the HTT gene that leads to a toxic form of the huntingtin protein, which gradually damages specific nerve cells in the brain.
Cause and genetics
Huntington’s disease is autosomal dominant, meaning a child of an affected parent has a 50% chance of inheriting the faulty gene and, if so, will eventually develop the disease if they live long enough. The mutation is an abnormal expansion of a CAG trinucleotide repeat in the HTT gene; 36 or more repeats usually cause disease, with higher numbers generally linked to earlier onset and faster progression.
Symptoms
Symptoms typically begin between ages 30 and 50, but can appear earlier or later in life. Common features include:
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Involuntary jerking or writhing movements (chorea) and clumsiness.
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Cognitive decline affecting concentration, planning, judgment, and memory.
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Mood and behavior changes such as irritability, depression, anxiety, and impulsivity.
Juvenile Huntington’s disease
About 5–10% of cases start before age 20 and are called juvenile Huntington’s disease. Juvenile cases often show slower movements, stiffness, falls, school decline, and seizures, and they usually progress more quickly, with life expectancy around 10–15 years after onset.
Course, prognosis, and complications
Huntington’s disease usually progresses over 15–20 years after symptom onset, leading to severe movement disability, dementia, and need for full-time care. Most deaths result from complications such as pneumonia, falls and injuries, or swallowing problems leading to aspiration, rather than the genetic defect itself.
Diagnosis and treatment
Diagnosis is based on clinical evaluation plus a genetic test that measures the number of CAG repeats in the HTT gene. There is no cure yet, but medications and therapies (physical, occupational, speech, and psychological support) can help manage movement, mood, and cognitive symptoms, and a gene‑therapy–based approach has recently shown promise in slowing disease progression by lowering mutant huntingtin levels.
OCULAR MANIFESTATIONS
Huntington's disease (HD) causes distinctive eye movement problems, primarily difficulty initiating and slowing down rapid eye movements (saccades), impaired smooth tracking, and issues with visual focus, often appearing as involuntary eye jerks or blinks (nystagmus) and requiring head thrusts to move eyes, alongside potential vision processing issues like poor contrast sensitivity, which can manifest early.
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