Short Description

NGS genetic DNA test detecets for variant and mutation detection in DRD2 gene for Myoclonic dystonia, DRD2 related

PreTest Information

Clinical History of Patient who is going for DRD2 Gene Myoclonic dystonia, DRD2 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DRD2 Gene Myoclonic dystonia, DRD2 related

Detail Description

DRD2 Gene Myoclonic Dystonia: Symptoms, Diagnosis, and DRD2 Related NGS Genetic DNA Test Cost

Myoclonic dystonia is a rare neurological disorder that affects a person's movement. It is caused by a mutation in the DRD2 gene. This gene provides instructions for making a protein called dopamine receptor D2. Dopamine is a neurotransmitter that is involved in controlling movement and emotion. When the DRD2 gene is mutated, it leads to a reduction in dopamine receptors in the brain, causing abnormal movements.

Symptoms of myoclonic dystonia include:

• Jerky movements of the arms, legs, or trunk
• Tremors or shaking
• Muscle stiffness or rigidity
• Uncontrollable spasms
• Difficulty walking or balancing

Diagnosis of myoclonic dystonia involves a combination of physical examination, medical history, and genetic testing. A neurologist will assess the patient's symptoms and perform a physical examination to rule out other conditions. Genetic testing is used to confirm the presence of a DRD2 gene mutation.

NGS genetic DNA testing is a highly accurate and efficient way to detect DRD2 gene mutations. Next-generation sequencing (NGS) technology allows for the analysis of multiple genes simultaneously, making it a cost-effective and time-efficient way to diagnose myoclonic dystonia. The cost of DRD2 related NGS genetic DNA testing in India is approximately INR 20,000.

Early diagnosis and treatment of myoclonic dystonia are crucial for managing symptoms and improving the patient's quality of life. Treatment options include medications that increase dopamine levels in the brain, physical therapy, and deep brain stimulation (DBS). DBS involves implanting a device in the brain that delivers electrical stimulation to the affected area, reducing symptoms.

In conclusion, myoclonic dystonia is a rare neurological disorder caused by a mutation in the DRD2 gene. Symptoms include jerky movements, tremors, and muscle stiffness. Diagnosis involves a combination of physical examination and genetic testing, with NGS genetic DNA testing being a cost-effective and time-efficient option. Early diagnosis and treatment are essential for managing symptoms and improving the patient's quality of life.