Short Description

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy. It refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN)._x000D_ Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and high-arched feet. Sensorineural hearing loss can occur._x000D_ Dejerine-Sottas syndrome (DSS) is a demyelinating neuropathy of infancy and childhood & is a form of CMT._x000D_ CMT can be caused by mutations in many different genes which code for proteins that are involved in the function of peripheral nerves in the feet, legs and hands. These mutations affect the function of the proteins in ways that are not fully understood however they likely impair axons which transmit nerve impulses or affect the specialized cells that produce myelin.

PreTest Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Detail Description

Nx GEN SEQUENCING: CHARCOT-MARIE-TOOTH DISEASE & SENSORY NEUROPATHIES Test

Charcot-Marie-Tooth Disease (CMT) is a hereditary disorder that affects the peripheral nerves. It is caused by genetic mutations that affect the myelin sheath of the nerves, leading to muscle weakness and sensory loss. Sensory neuropathies are a group of disorders that affect the sensory nerves, leading to abnormal sensations such as tingling, numbness, and pain.

Nx GEN SEQUENCING is a genetic test that can help diagnose these disorders. It is a next-generation sequencing technology that can analyze the entire DNA sequence of a patient, identifying any genetic mutations that may be causing the disorder.

Symptoms of Charcot-Marie-Tooth Disease & Sensory Neuropathies

The symptoms of Charcot-Marie-Tooth Disease and Sensory Neuropathies can vary depending on the type and severity of the disorder. Some common symptoms include:

• Muscle weakness
• Numbness or tingling in the hands and feet
• Loss of coordination and balance
• Difficulty walking
• Abnormal sensations such as burning or shooting pains

Diagnosing Charcot-Marie-Tooth Disease & Sensory Neuropathies

Diagnosing Charcot-Marie-Tooth Disease and Sensory Neuropathies can be challenging, as the symptoms can be similar to other neurological disorders. However, Nx GEN SEQUENCING can provide an accurate diagnosis by identifying the genetic mutations that are causing the disorder.

The test involves taking a small sample of blood or tissue from the patient, which is then analyzed using next-generation sequencing technology. The results of the test can provide valuable information about the genetic mutations that are causing the disorder, which can help guide treatment and management decisions.

Test Cost

The cost of Nx GEN SEQUENCING for Charcot-Marie-Tooth Disease and Sensory Neuropathies is INR 23400. This cost may vary depending on the specific testing facility and any additional testing or services that may be required.

Conclusion

Nx GEN SEQUENCING is a valuable tool for diagnosing Charcot-Marie-Tooth Disease and Sensory Neuropathies. By identifying the genetic mutations that are causing the disorder, patients and healthcare providers can make informed decisions about treatment and management options. If you or a loved one are experiencing symptoms of these disorders, speak to your healthcare provider about Nx GEN SEQUENCING and whether it may be a useful diagnostic tool.

At DNA Labs India, we offer a range of genetic testing services, including Nx GEN SEQUENCING for Charcot-Marie-Tooth Disease and Sensory Neuropathies. Contact us today to learn more about our testing options and how we can help you.

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy. It refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN). Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and high-arched feet. Sensorineural hearing loss can occur. Dejerine-Sottas syndrome (DSS) is a demyelinating neuropathy of infancy and childhood & is a form of CMT. CMT can be caused by mutations in many different genes which code for proteins that are involved in the function of peripheral nerves in the feet, legs and hands. These mutations affect the function of the proteins in ways that are not fully understood; however they likely impair axons which transmit nerve impulses or affect the specialized cells that produce myelin.