Spinocerebellar Ataxia Type 3 (SCA-3), also known as Machado-Joseph Disease, is a rare, inherited neurodegenerative disorder that affects the cerebellum—the part of the brain that controls muscle movement. It is caused by a mutation in the ATXN3 gene, which leads to the abnormal function of ataxin-3 protein, thereby affecting the nervous system and leading to a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and management of the condition. DNA Labs UAE offers a comprehensive genetic testing service for the ATXN3 gene mutation, helping individuals and families to identify the presence of SCA-3.
Symptoms of SCA-3
SCA-3 presents with a variety of symptoms that typically manifest between the ages of 20 and 50, although onset can occur at any age. The symptoms gradually worsen over time and may include:
Ataxia: Lack of muscle control or coordination of voluntary movements, such as walking or picking up objects, which is the hallmark of SCA-3.
Eye movement abnormalities: Difficulty in controlling eye movements, including slow eye movements, rapid involuntary eye movements (nystagmus), and double vision.
Muscle weakness: Progressive weakness in the limbs, which may affect mobility and daily activities.
Spasticity: Increased muscle tone, leading to stiffness and spasms.
Dysarthria: Difficulty in articulating words, caused by impairment of the muscles used in speech.
Dysphagia: Difficulty swallowing, which can lead to nutritional deficiencies and weight loss.
Cognitive impairment: Problems with memory, planning, and decision-making skills, although these are less common.
Peripheral neuropathy: Numbness, tingling, or pain in the arms and legs due to nerve damage outside the central nervous system.
Dystonia: Involuntary muscle contractions that cause repetitive or twisting movements.
Parkinsonism: Symptoms similar to Parkinson’s disease, such as tremors, rigidity, and bradykinesia (slowed movement).
It is important to note that the severity and progression of these symptoms can vary significantly among individuals, even within the same family.
ATXN3 Gene Mutation Test at DNA Labs UAE
DNA Labs UAE offers a specialized genetic test for the ATXN3 gene mutation, which is the definitive method for diagnosing SCA-3. This test analyzes the DNA to identify the abnormal expansion of CAG repeats in the ATXN3 gene, which is responsible for the disease. The test is recommended for individuals who have a family history of SCA-3 or exhibit symptoms associated with the condition.
The cost of the ATXN3 gene mutation test at DNA Labs UAE is 590 AED. The process is straightforward and requires only a simple blood sample. The results of the test can provide valuable information for affected individuals and their families, including the confirmation of the diagnosis, information on the progression of the disease, and guidance on managing symptoms and planning for the future.
For more information about the SCA-3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test and to schedule your test, please visit DNA Labs UAE.
Conclusion
SCA-3 is a challenging condition that affects individuals and families in many ways, from physical and emotional well-being to financial and social aspects. Early diagnosis through genetic testing, such as the ATXN3 gene mutation test offered by DNA Labs UAE, plays a crucial role in managing the disease. By understanding the symptoms and accessing the right resources, individuals with SCA-3 can lead fuller, more active lives despite the challenges posed by the condition.
