Which are the symptoms of Chorea-acanthocytosis ChAc?

Chorea-acanthocytosis (ChAc) is a rare genetic disorder that primarily affects the nervous system. It is characterized by a combination of movement abnormalities, cognitive decline, and red blood cell abnormalities. The symptoms of ChAc can vary widely among affected individuals, but there are several key features that are commonly observed.

1. Movement Abnormalities:

Chorea, which refers to involuntary, jerky movements, is the hallmark feature of ChAc. These movements typically start in the face and gradually spread to other parts of the body. They can be mild or severe, and may worsen over time. In addition to chorea, individuals with ChAc may also experience other movement disorders such as dystonia (sustained muscle contractions causing twisting or repetitive movements) and parkinsonism (tremors, rigidity, and bradykinesia).

2. Acanthocytosis:

Acanthocytes, or "spur cells," are abnormal red blood cells with thorny projections on their surface. These cells are a characteristic feature of ChAc and can be observed under a microscope in a blood sample. Acanthocytosis can lead to various complications, including anemia, which may cause fatigue, weakness, and shortness of breath.

3. Cognitive Decline:

ChAc can also affect cognitive function, leading to progressive decline in intellectual abilities. This may manifest as difficulties with memory, attention, problem-solving, and language. Some individuals may develop psychiatric symptoms such as depression, anxiety, or personality changes.

4. Neuropathy:

Peripheral neuropathy, which involves damage to the nerves outside the brain and spinal cord, is another common feature of ChAc. It can cause symptoms such as numbness, tingling, muscle weakness, and difficulty with coordination and balance.

5. Seizures:

Seizures, characterized by abnormal electrical activity in the brain, can occur in individuals with ChAc. These seizures may vary in type and severity, and can further contribute to the overall neurological symptoms.

6. Other Symptoms:

Additional symptoms that may be present in ChAc include speech difficulties, swallowing problems, weight loss, and muscle wasting. Some individuals may also develop cardiomyopathy (weakening of the heart muscle) or liver dysfunction.

It is important to note that the onset and progression of symptoms can vary significantly among individuals with ChAc. While some may experience symptoms in childhood or adolescence, others may not develop noticeable symptoms until adulthood. The severity of symptoms can also differ, even among affected family members.

Chorea-acanthocytosis is caused by mutations in the VPS13A gene, which provides instructions for producing a protein involved in intracellular transport. The exact mechanisms by which these mutations lead to the characteristic symptoms of ChAc are not fully understood.

Diagnosis of ChAc typically involves a thorough clinical evaluation, including a detailed medical history, physical examination, and various laboratory tests. Genetic testing can confirm the presence of VPS13A gene mutations.

Although there is currently no cure for ChAc, treatment focuses on managing the symptoms and improving quality of life. This may involve a multidisciplinary approach, including medications to control movement disorders, physical and occupational therapy to enhance mobility and function, speech therapy to address communication difficulties, and supportive care for associated complications.

It is important for individuals with suspected or diagnosed Chorea-acanthocytosis to work closely with healthcare professionals to develop an individualized treatment plan. Additionally, genetic counseling can be beneficial for affected individuals and their families to understand the inheritance pattern and potential risks for future generations.