Chorea is a movement condition that causes jerky, involuntary motions of the limbs, face, and trunk. Acanthocytosis is a disorder in which the surface of red blood cells has spiky or irregularly shaped projections. Chorea-acanthocytosis (ChAc) is an inherited neurological disorder affecting the brain, muscles, and red blood cells. Neuroacanthocytosis is another name for Levy-Weissenberger syndrome.
ChAc is caused by mutations in the VPS13A gene, which encodes instructions for the production of a protein required for cell function. The precise process by which mutations cause ChAc formation is not entirely understood. The disease mainly occurs in people with the age of 20 years or after the age of 50 years.
The complications of chorea-acanthocytosis often start in early adulthood and increase over time. Chora, an uncontrollable, fast, jerky, and unpredictable movement of the limbs, face, and tongue, is the hallmark movement dysfunction of ChAc. Acanthocytosis, or the presence of aberrant red blood cells with spiky projections, is another distinguishing aspect of the disease. Due to the rarity of the disease, there is limited information on its long-term outlook and progression.
Who are affected by chorea-acanthocytosis
Chorea-acanthocytosis is a rare genetic condition that affects persons of all racial and ethnic backgrounds. It is an autosomal recessive disorder, which means that to develop the condition, a person must inherit two copies of the defective gene, one from each parent. The condition normally manifests itself in early to mid-adulthood, commonly in one’s 30s or 40s. It can also occur during childhood or adolescence in rare situations.
Causes of Chorea-Acanthocytosis
The specific methods through which the VPS13A mutation causes chorea-acanthocytosis are unknown, however the aberrant protein is thought to produce an accumulation of poisonous compounds in the cells, causing them to malfunction and eventually die. This causes the disorder’s typical symptoms, such as mobility issues, mental disorders, and other neurological impairments.
Chorea-acanthocytosis is inherited in an autosomal recessive form, which means that to acquire the illness, a person must inherit two copies of the mutant VPS13A gene, one from each parent. Carriers are people who have only one copy of the defective gene and do not often exhibit signs of the condition.
Symptoms
Involuntary movements, or chorea, are the most prevalent symptoms of ChAc, and they often begin in the face and tongue before spreading to other areas of the body.
- jerky, uneven, and unpredictable motions make it difficult for affected individuals to complete daily chores such as eating, dressing, and walking.
- muscle weakness and stiffness,
- difficulties speaking and swallowing,
- personality and behavioural abnormalities.
- Some people may also have psychological symptoms like despair and anxiety, as well as seizures and cognitive deterioration.
ChAc often appears in mid to late adulthood, with symptoms worsening with time. Even within the same family, the severity and development of the disease might vary greatly.
Diagnosis
Chorea-acanthocytosis is diagnosed using a combination of clinical assessments, laboratory investigations, and imaging examinations. The initial steps in identifying the illness are a thorough medical history and physical examination. The doctor would likely inquire about the patient’s symptoms as well as any family history of neurological or movement issues.
Blood test
Blood tests may be performed to look for antibodies or other indicators that suggest the existence of chorea-acanthocytosis. There is also genetic testing available to assist discover any mutations or anomalies in the genes connected with the illness.
Imaging studies
Magnetic resonance imaging (MRI) or computed tomography (CT) scans, for example, may be performed to study the brain and rule out other probable explanations of the symptoms. Electromyography (EMG) and nerve conduction investigations may also be used to assess nerve and muscle function.
It should be noted that diagnosing chorea-acanthocytosis can be difficult because the symptoms can be similar to those of other movement disorders, such as Huntington’s disease. A comprehensive examination by a neurologist or movement disorder specialist is essential for correctly diagnosing the illness.
Treatment for chorea-Acanthocytosis
There is presently no cure for chorea-acanthocytosis, and treatment focuses on symptom management.
Medications
Chorea and dystonia, two of the disease’s prominent symptoms, can be controlled with medications. Antipsychotic drugs such as haloperidol and tetrabenazine, for example, may be administered to assist control uncontrollable movements.
Speech and physical therapy
Those with chorea-acanthocytosis may benefit from speech and physical therapy as well. These treatments can aid in the improvement of speech, mobility, and coordination.
Deep brain stimulation (DBS)
Deep brain stimulation (DBS) surgery may be an option in some circumstances. DBS is a procedure that involves implanting electrodes in the brain to assist regulate movement disorders such as tremors and dystonia. Unfortunately, DBS is not appropriate for everyone with chorea-acanthocytosis, and it is not always effective.
Supportive care
Ultimately, persons with chorea-acanthocytosis require supportive care. This may include taking care of food and nutritional needs, providing assistive devices such as wheelchairs, and dealing with any respiratory or cardiovascular concerns that may emerge.
Effects on children
Chorea-acanthocytosis can have a substantial impact on children’s development and quality of life. The condition’s mobility problems can make it difficult for youngsters to participate in activities and affect their ability to complete daily duties. Cognitive impairment and mental symptoms can also have an impact on a child’s capacity to study, socialise, and function at school.
Children with chorea-acanthocytosis may require continuing care and support to manage the condition’s consequences on their development and quality of life. Regular medical appointments, educational support, and access to specialised services such as speech and language therapy can all be part of this.
We learned a few new things about chorea-Acanthocytosis and its causes and symptoms from the preceding article. Anyone experiencing the symptoms listed above should see a doctor as soon as possible. Although there is no cure, various treatment approaches can help alleviate symptoms.
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