Skip to main content

Posts

Walker-Warburg Syndrome

Walker-Warburg Syndrome Overview What is Walker-Warburg syndrome? Walker-Warburg syndrome is a genetic condition that affects the muscles in your child’s body, including their brain and their eyes. This condition is a type of congenital muscular dystrophy present at birth or infancy that leads to progressive muscle weakness over time. This condition causes life-threatening symptoms for children and a shortened life expectancy. What is dystroglycanopathy? You might hear Walker-Warburg syndrome identified as dystroglycanopathy. Walker-Warburg syndrome is a form of congenital (appears at birth) muscular dystrophy, which is a group of conditions that target the muscles of your child’s body. There are several types of muscular dystrophy categorized as dystroglycanopathy, which identifies forms of muscular dystrophy caused by genes that produce the dystroglycan protein. Walker-Warburg syndrome is the most severe type of dystroglycanopathy. How common is Walker-Warburg syndrome? Walker-Warbur...
Post a Comment
Read more
Recent posts

Von Hippel-Lindau Disease (VHL)

Von Hippel-Lindau Disease (VHL) Overview von Hippel-Lindau disease (VHL) is a rare genetic disorder that significantly increases the chance that you’ll have certain kinds of cancerous (malignant) tumors and noncancerous (benign) tumors and cysts. Healthcare providers may call this condition von Hippel-Lindau syndrome. The condition happens if you inherit a specific genetic mutation (change). Research shows that by the time they’re 65 years old, 97% of people who carry this genetic mutation will develop tumors and other conditions that VHL causes. Surgery is the most common treatment for conditions that von Hippel-Landau disease may cause. What cancers are associated with von Hippel-Landau disease? Having this condition increases the chance you’ll have one or more of the following kinds of cancer: Clear cell renal carcinoma (ccRCC): This is the most common form of renal cell carcinoma (kidney cancer). Experts estimate 25% to 60% of people with VHL disease have this cancer.  Pancrea...
Post a Comment
Read more

Locked-in Syndrome

Locked-in Syndrome Overview Locked-in syndrome (LiS) is a rare neurological disorder that causes paralysis of voluntary muscles, except for those that allow you to move your eyes up and down. People with locked-in syndrome are conscious, alert and have their usual thinking and reasoning abilities. But they can’t show facial expressions, talk or move. People with LiS can hear and typically communicate through purposeful eye movements, blinking or both. They can also use assistive technologies to communicate. Damage to a specific part of your brainstem, known as the pons, causes this syndrome. Anyone can develop LiS. It’s usually the result of underlying disease, such as stroke or a brain tumor. Because LiS may go unrecognized or misdiagnosed, it’s hard for researchers to know the actual number of cases each year. But they agree that it’s rare. Types of this condition Locked-in syndrome has three main types, or forms, including: The classical form : You have total immobility (lack of vol...
Post a Comment
Read more

Vogt-Koyanagi-Harada Disease (VKH

Vogt-Koyanagi-Harada Disease (VKH) Overview Vogt-Koyanagi-Harada disease (VKH) is a rare condition that causes inflammation and damage throughout your body. It’s also known as Vogt-Koyanagi-Harada syndrome. VKH disease can affect your: Eyes Inner ear Skin Hair Brain Spinal cord Vogt-Koyanagi-Harada can permanently damage your vision and hearing if it’s not treated quickly. Visit a healthcare provider or eye doctor if you notice any sudden changes. Symptoms VKH causes lots of symptoms. You’ll notice some right away. It usually affects both your eyes first. Vision changes are the first sign. Symptoms will appear in other parts of your body later. There are four phases: Prodromal phase Acute uveitic phase Chronic phase Recurrent chronic phase Prodromal phase Prodrome is the medical name for an early sign or symptom. This first phase of VKH disease is short. It usually lasts around a week. Symptoms in this phase often resemble a flu-like illness. They can include: Eye pain, especially pain...
Post a Comment
Read more

Diplegia

Diplegia Overview Diplegia is a form of paralysis or motor impairment affecting symmetrical body parts, most commonly both legs (spastic diplegia), though it can affect the arms or face. Often caused by cerebral palsy due to premature birth, it causes muscle stiffness and high tone (spasticity). While it affects mobility, it does not always impact intelligence. Symptoms Spasticity: Extremely tight, stiff muscles in the lower limbs, leading to limited movement.  Scissor   Gait: Legs turn inward, cross at the knees, or stiffen, making walking difficult. Toe  Walking: A tendency to walk on toes due to tightened calf muscles. Weakness in Legs: Difficulty holding up body weight.  Delayed Motor Milestones: Delays in sitting, crawling, or walking (often walking is delayed until ages 2–4). Muscle/Joint Issues : Permanent contractures (shortening of muscles), joint deformities, and hip displacement. Balance/Posture Issues : Difficulty with coordination and maintaining po...
Post a Comment
Read more

Monoplegia

  Monoplegia Overview What is monoplegia? Monoplegia occurs when something, like a stroke or an injury, disrupts the nerve signals to the muscles in your arm or leg. It’s a type of paralysis that affects one arm or leg. Paralysis means you can’t move a part of your body. Monoplegia is sometimes temporary, but it’s often permanent. A problem with your nervous system causes monoplegia. Your nervous system is your body’s command and communication system. It sends signals from your brain throughout your body, telling it what to do. If something damages your nervous system, messages can’t get through to the muscles in your arm or leg. The message has to go from your brain to your spinal cord, nerve roots, nerves and then your muscles. So, there are a lot of places that monoplegia could come from. Symptoms The inability to move one of your arms or legs is the most common symptom of monoplegia. Other symptoms that happen with monoplegia that may affect your arm or leg include: Curling of ...
Post a Comment
Read more

Hemiplegia

Hemiplegia Overview Hemiplegia is paralysis that affects only one side of your body. This symptom is often a key indicator of severe or life-threatening conditions like a stroke, but can also happen with conditions and circumstances that aren’t as dangerous. Hemiplegia is paralysis, which means you can’t move or control the muscles in the affected body part. That can cause muscles that are completely limp. It can also cause spastic hemiplegia, a type of paralysis where muscles contract uncontrollably. Hemiplegia affects either the right side of your body (right hemiplegia) or the left side of your body (left hemiplegia), with your spine (backbone) being the dividing line between the two halves. Hemiplegia may affect your face, arm and leg on one side of your body in various ways: The paralysis may not be present, or not be as severe in all of these three body areas. There are even some rare conditions that cause hemiplegia to come and go, affecting one or both sides of the body as it d...
Post a Comment
Read more