Short Description

NGS genetic DNA test detecets for variant and mutation detection in SPR gene for Dystonia, DOPA-responsive, autosomanl recessive

PreTest Information

Clinical History of Patient who is going for SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPR Gene Dystonia, DOPA-responsive, autosomanl recessive

Detail Description

SPR Gene Dystonia, DOPA-responsive, Autosomal Recessive NGS Genetic DNA Test Cost INR: 20000 Symptoms Diagnosis

SPR gene dystonia is a rare neurological disorder that affects movement. It is caused by mutations in the SPR gene, which provides instructions for making an enzyme called sepiapterin reductase. This enzyme is involved in the production of neurotransmitters, which are chemical messengers that help nerve cells communicate with each other.

SPR gene dystonia is a type of DOPA-responsive dystonia, which means that it can be treated with a medication called levodopa. However, not all cases of SPR gene dystonia respond to levodopa treatment.

Symptoms of SPR Gene Dystonia

The symptoms of SPR gene dystonia can vary widely from person to person. In some cases, symptoms may be mild and only affect certain parts of the body. In other cases, symptoms may be more severe and affect multiple parts of the body. Common symptoms of SPR gene dystonia include:

• Involuntary muscle contractions
• Tremors
• Difficulty with movements like walking, writing, or speaking
• Stiffness in the muscles
• Abnormal postures
• Difficulty with fine motor skills like buttoning clothes or tying shoes

Diagnosis of SPR Gene Dystonia

Diagnosis of SPR gene dystonia is typically done through genetic testing. A sample of the patient's DNA is taken and analyzed for mutations in the SPR gene. If a mutation is found, the patient is diagnosed with SPR gene dystonia.

Other tests may be done to rule out other possible causes of the patient's symptoms, such as brain imaging or blood tests.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for SPR gene dystonia is typically around INR 20000 in India. However, the cost may vary depending on the specific testing facility and any additional testing that may be required.

Treatment for SPR Gene Dystonia

Treatment for SPR gene dystonia typically involves medications to help manage symptoms. Levodopa is often used to treat DOPA-responsive dystonia, but not all cases of SPR gene dystonia respond to this medication.

Other medications that may be used to treat SPR gene dystonia include anticholinergics, which help reduce muscle spasms, and benzodiazepines, which help reduce anxiety and muscle tension.

In some cases, surgery may be recommended to help manage symptoms. Deep brain stimulation is a type of surgery that involves implanting electrodes in the brain to help regulate movement and reduce symptoms.

Conclusion

SPR gene dystonia is a rare neurological disorder that affects movement. It is caused by mutations in the SPR gene and can be diagnosed through genetic testing. Treatment typically involves medications to manage symptoms, but surgery may be recommended in some cases. If you are experiencing symptoms of SPR gene dystonia, it is important to speak with a healthcare provider to get an accurate diagnosis and appropriate treatment.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for SPR Gene Dystonia, DOPA-responsive, autosomanl recessive NGS Genetic DNA Test