Skip to main content

Chorea-acanthocytosis

Chorea-acanthocytosis



Definition

Chorea-acanthocytosis (ChAc) is a very rare, hereditary neurodegenerative disorder. The characteristic features of the condition are problems with movement and star-shaped red blood cells.

The condition occurs due to a genetic alteration that affects a protein known as chorein. The variation causes this protein to be much smaller and nonfunctional. However, researchers are currently unsure how this genetic change causes the symptoms of ChAc. At present, there is no cure for ChAc, but many treatment options are available to help relieve symptoms.

ChAc is a type of Trusted Source neuroacanthocytosis. This term refers to a group of conditions that cause movement problems and star-shaped red blood cells. ChAc is a rare condition. Evidence suggests that only 500 to 1,000 people worldwide have the condition.

What is chorea?

Chorea refers to the specific type of jerking, twitching, or dance-like movements that occur in people with ChAc. Health experts define chorea Trusted Source as a state of spontaneous, exaggerated movements that:

do not have regular timing

are not repetitive in nature

happen randomly

usually start and finish abruptly

This condition is also known as VPS13A disease Trusted Source, named after the gene that causes it to develop. Chorea can range from mild to severe.

Mild chorea comes and goes, causing uncontrollable fidgeting with the hands and exaggerated gestures and facial expressions. Severe chorea can lead to continuous, violent, involuntary movements that significantly interfere with daily function.

What is acanthocytosis?

Acanthocytosis is a condition that causes Trusted Source the formation of star-shaped red blood cells. It occurs when the proteins and fatty substances that make up the outer layers of cells undergo changes. These changes usually develop in people with severe liver problems, malnutrition, and low activity in the thyroid glands.

Certain conditions, such as neuroacanthocytosis, can lead to these abnormal cells. The name comes from the spikes or points called acanthocytes Trusted Source that develop on the outside of the cells. This shape may affect how the cells work as well as their ability to pass through the smallest blood vessels.

Symptoms

Chorea is the main symptom of ChAc. This involves unwanted movements, usually affecting the arms and legs. These movements might include sporadic shoulder shrugs, pelvic thrusts, and a lurching walking style that includes involuntary knee flexing.

These symptoms often begin when a person is an adult and get worse over time. Other movement-based symptoms might include Trusted Source repeatedly dropping objects or repeatedly squeezing and releasing them while attempting a single gripping motion.

Dystonia is another common ChAc symptom. This involves involuntary muscle contraction and the contraction of certain body parts into atypical movements and postures. In those with ChAc, dystonia of the mouth and face are common.

Other common symptoms include:

nerve damage, leading to numbness and loss of reflexes

muscle wasting

weakness

seizures

Rarely, people with ChAc may develop symptoms that resemble those of Parkinson’s disease, including stiffness, tremors, and quiet speech.

Facial symptoms

When dystonia and chorea occur in the faces of people with ChAc, they can cause:

tongue thrusting

involuntary grimacing

unusual jaw movements

uncontrollable grinding of the teeth

excessive belching, spitting, or drooling

regularly biting the lips or tongue

swallowing difficulties

speech and communication difficulties

vocal tics including grunts and involuntary speech

slurred speech

Cognitive, personality, and behavioral symptoms

These may develop later on in the progression of ChAc. People with ChAc can experience:

apathy

depression

hyperactivity

irritability

slow thought processes

extreme mood changes

anxiety

aggression

paranoia

compulsive behaviors such as chronic hair-pulling

Causes

ChAc develops due to changes in the VPS13A gene. This gene has links to the body’s ability to make a protein called chorein. Although this protein’s function is not clear, chorein proteins are unusually small and do not work correctly in people with ChAc.

ChAc passes from parents to children in an autosomal recessive pattern. This means that a copy of the VPS13A gene variation has to pass down from each parent. If a person only has one copy, they can still pass on the condition to their own offspring as a carrier. If they have a child with another carrier, the child may have the gene alteration and develop acanthocytosis.

Complications

ChAc can eventually become so severe that some people with the condition develop the following complications:

a lost ability to walk independently, meaning they remain in bed or require a wheelchair

mutilation of the lips and tongue due to excessive involuntary biting

muteness or an inability to speak

dementia and progressive memory problems

A person with advanced ChAc may not be able to care for themselves.

Diagnosis

There are no set diagnostic criteria Trusted Source for ChAc. Diagnosing ChAc involves ruling out conditions with similar symptoms, such as Huntington disease, and checking the blood for signs of acanthocytosis. This may involve:

a detailed medical examination to identify its main symptoms

blood tests, which often show high serum creatine kinase levels

genetic testing, which can show changes to the VPS13A gene

MRI and CT scans, which can show brain changes

electromyography (EMG), which can demonstrate muscle and nerve function and identify problems

TreatmentCurrently, there is no cure for ChAc. However, several treatments can help people manage individual symptoms, preserve function, and maintain quality of life.

Psychiatric symptom management and chorea treatment

Dopamine-receptor blocking drugs play a role in reducing chorea movements, as dopamine is crucial for brain functions including movement control.

People with ChAc might also benefit from using additional medications when symptoms arise, such as:

antipsychotics

antidepressants

sedatives

Seizure treatment

Almost half of all people with ChAc live with regular seizures and may need to take anticonvulsants such as phenytoin and valproate. However, some antiseizure medications may make chorea worse and might not be suitable for some people with ChAc.

Dystonia treatment

Botulinum toxin (Botox) injections may help people reduce or resolve muscle spasms due to dystonia. The effects may take 5 to 10 days, and people may need to have another injection every 3 to 4 months.

Nutritional support

As people with ChAc may have difficulty chewing and swallowing food, it is vital for people to monitor their nutritional status. They may need support from a dietitian or nutritionist. Individuals with ChAc may also need to supplement vitamins and minerals if they have low levels.

Doctors may insert feeding tubes for people with severe ChAc who can no longer eat.

Therapies to assist with daily function

Speech, physical, and occupational therapists may help preserve or restore a person with ChAc’s ability to move, speak, and work. Not every person will need these services, and a doctor will adjust their recommendations based on which symptoms interfere most with everyday function, as well as the stage of progression.

People may also benefit from using certain devices. A mouth guard can help limit damage to the tongue and lips from involuntary biting. Braces may support limb stability, and people may need a wheelchair to move around.

Computer-assisted speech devices can support communication in everyday life for people with ChAc.

Deep brain stimulation

People with ChAc might benefit from a surgical procedure called deep brain stimulation. A surgeon places an electrode in the brain and a small battery pack near the collarbone to control movements and block disruptive nerve signals that could have links to chorea and dystonia.

Genetic counseling

Genetic counseling may be beneficial for affected individuals and their families. It can help people with ChAc work out the risk of passing on the VPS13A gene and whether offspring might develop the condition.

Summary

Chorea-acanthocytosis is a rare type of neuroacanthocytosis. It causes brain and central nervous system symptoms as well as star-shaped red blood cells called acanthocytes. The main symptoms are chorea, which involves involuntary muscle movements, and dystonia, which leads to muscles staying contracted. Seizures and behavioral symptoms are also common.

The condition develops due to alterations in a gene called VPS13A. At present, there is no cure, and the disease can progress to a point where individuals can no longer eat, speak, or move unassisted. However, medications, devices, and various therapies can reduce the impact of chorea-acanthocytosis on everyday function.

Type of Doctor Department : A neurologist, geneticist, and possibly a psychiatrist or neuropsychiatrist.

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Legg–Calve–Perthes disease

  Legg–Calve–Perthes disease Overview Legg-Calve-Perthes (LEG-kahl-VAY-PER-tuz) disease is a childhood condition that occurs when blood supply to the ball part (femoral head) of the hip joint is temporarily interrupted and the bone begins to die. This weakened bone gradually breaks apart and can lose its round shape. The body eventually restores blood supply to the ball, and the ball heals. But if the ball is no longer round after it heals, it can cause pain and stiffness. The complete process of bone death, fracture and renewal can take several years. To keep the ball part of the joint as round as possible, doctors use a variety of treatments that keep it snug in the socket portion of the joint. The socket acts as a mold for the fragmented femoral head as it heals. Symptoms Symptoms of Perthes disease include: Limping. Pain or stiffness in the hip, groin, thigh or knee. Limited range of motion of the hip joint. Pain that worsens with activity and improves with rest. Perthes diseas...
Post a Comment
Read more

Acral Peeling Skin Syndrome

Overview Acral peeling skin syndrome is a skin disorder characterized by painless peeling of the top layer of skin. The term "acral" refers to the fact that the skin peeling in this condition is most apparent on the hands and feet. Occasionally, peeling also occurs on the arms and legs. The peeling is usually evident from birth, although the condition can also begin in childhood or later in life. Skin peeling is made worse by exposure to heat, humidity and other forms of moisture, and friction. The underlying skin may be temporarily red and itchy, but it typically heals without scarring. Acral peeling skin syndrome is not associated with any other health problems. Symptoms The main symptom of APSS is the painless peeling of the skin. Most people can remove this skin by hand, and it may come off in sheets, similar to peeling skin after a sunburn. 1. blistering 2. itching 3. easily removable hairs If a person exposes their skin to heat, sweat, or water, they may notice that the...
Post a Comment
Read more