Short Description

NGS genetic DNA test detecets for variant and mutation detection in ALS2 gene for Primary lateral sclerosis, juvenile

PreTest Information

Clinical History of Patient who is going for ALS2 Gene Primary lateral sclerosis, juvenile NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ALS2 Gene Primary lateral sclerosis, juvenile

Detail Description

DNA Labs India: Primary Lateral Sclerosis and the ALS2 Gene

Primary lateral sclerosis (PLS) is a rare neurological disorder that affects the upper motor neurons in the brain and spinal cord. It is characterized by muscle weakness, stiffness, and spasticity, and can lead to difficulty with movement, speech, and swallowing. While the exact cause of PLS is unknown, research has shown that mutations in the ALS2 gene may play a role in the development of the disease.

The ALS2 Gene

The ALS2 gene, also known as the alsin gene, provides instructions for making a protein that is involved in the development and maintenance of neurons in the brain and spinal cord. Mutations in this gene have been linked to several neurological disorders, including PLS, amyotrophic lateral sclerosis (ALS), and hereditary spastic paraplegia (HSP).

While mutations in the ALS2 gene are rare, they have been identified in a small number of individuals with PLS. These mutations can lead to a loss of function in the alsin protein, which may contribute to the degeneration of upper motor neurons.

Symptoms of PLS

PLS typically begins in adulthood, with most cases diagnosed between the ages of 40 and 60. The symptoms of PLS can vary from person to person, but often include:

• Weakness and stiffness in the legs, which can make walking difficult
• Tightness and spasticity in the muscles
• Difficulty with fine motor skills, such as writing or buttoning clothes
• Slurred speech or difficulty speaking clearly
• Difficulty swallowing
• Changes in emotional behavior or personality

PLS is a progressive disease, meaning that symptoms typically worsen over time. However, the rate of progression can vary widely between individuals, and some people may experience only mild symptoms for many years.

Diagnosing PLS

Because PLS is a rare disease, it can be difficult to diagnose. The symptoms of PLS can be similar to those of other neurological disorders, such as ALS or HSP, and there is no definitive test for PLS.

Diagnosis of PLS typically involves a thorough medical history and neurological examination, as well as tests to rule out other possible causes of the symptoms. These may include blood tests, imaging tests such as MRI or CT scans, and nerve conduction studies.

NGS Genetic DNA Test for PLS

One way to identify mutations in the ALS2 gene is through genetic testing. At DNA Labs India, we offer a Next Generation Sequencing (NGS) genetic DNA test for PLS that can detect mutations in the ALS2 gene. The cost of this test is INR 20,000.

The NGS genetic DNA test for PLS involves taking a small blood sample from the patient, which is then analyzed in our state-of-the-art laboratory. The test can detect a wide range of genetic mutations, including those in the ALS2 gene that may contribute to the development of PLS.

Conclusion

PLS is a rare neurological disorder that can be difficult to diagnose. While the exact cause of PLS is unknown, research has shown that mutations in the ALS2 gene may play a role in the development of the disease. At DNA Labs India, we offer a genetic DNA test for PLS that can detect mutations in the ALS2 gene and help diagnose this rare condition. Contact us today to learn more.

Primary lateral sclerosis (PLS) is a rare motor neuron disorder that affects the upper motor neurons in the brain and spinal cord, leading to progressive muscle weakness and spasticity. The ALS2 gene is one of the genes associated with a specific subtype of PLS known as Juvenile Primary Lateral Sclerosis (JPLS).